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
KLHL17	339451	broad.mit.edu	37	1	900386	900386	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:900386G>A	uc001aca.1	+	12	1851	c.1744G>A	c.(1744-1746)GTG>ATG	p.V582M	KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	582	Kelch 6.|Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTTGTACGCCGTGGGGGGTAA	0.657												
AGRN	375790	broad.mit.edu	37	1	977059	977059	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:977059G>A	uc001ack.1	+	6	1204	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	385	Kazal-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAGAAAGTGCGCTCCGGCCAG	0.736												
ATAD3B	83858	broad.mit.edu	37	1	1421563	1421563	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:1421563G>T	uc001afv.2	+	10	1138	c.1037G>T	c.(1036-1038)AGG>ATG	p.R346M	ATAD3B_uc001afx.2_Missense_Mutation_p.R300M	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	346							ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCCTGTACAGGCACATCCTG	0.657												
NADK	65220	broad.mit.edu	37	1	1685737	1685737	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:1685737G>A	uc009vkw.2	-	9	1050	c.929C>T	c.(928-930)ACG>ATG	p.T310M	NADK_uc001aic.2_Missense_Mutation_p.T310M|NADK_uc001aid.3_Missense_Mutation_p.T310M|NADK_uc001aie.2_Missense_Mutation_p.T455M|NADK_uc010nyv.1_Missense_Mutation_p.T278M|NADK_uc009vkx.1_Missense_Mutation_p.T188M	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	310					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCCCTGCACCGTGGTGATGAG	0.647												
AJAP1	55966	broad.mit.edu	37	1	4832466	4832466	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:4832466G>A	uc001alm.1	+	4	1425	c.1044G>A	c.(1042-1044)ACG>ACA	p.T348T	AJAP1_uc001aln.2_Silent_p.T348T	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	348	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACATATTCACGGCCTATAACG	0.612												
PLEKHG5	57449	broad.mit.edu	37	1	6531129	6531129	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:6531129T>C	uc001ano.1	-	14	1582	c.1481A>G	c.(1480-1482)TAC>TGC	p.Y494C	PLEKHG5_uc001ann.1_Missense_Mutation_p.Y475C|PLEKHG5_uc001anq.1_Missense_Mutation_p.Y515C|PLEKHG5_uc001anp.1_Missense_Mutation_p.Y515C|PLEKHG5_uc001anj.1_5'UTR|PLEKHG5_uc009vma.1_Missense_Mutation_p.Y278C|PLEKHG5_uc010nzr.1_Missense_Mutation_p.Y507C|PLEKHG5_uc001ank.1_Missense_Mutation_p.Y438C|PLEKHG5_uc009vmb.1_Missense_Mutation_p.Y438C|PLEKHG5_uc001anl.1_Missense_Mutation_p.Y438C|PLEKHG5_uc001anm.1_Missense_Mutation_p.Y438C|PLEKHG5_uc001anr.1_5'Flank	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	494	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCCATGCAGTAGCGGATGTA	0.527												
CLSTN1	22883	broad.mit.edu	37	1	9795576	9795576	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:9795576C>T	uc001aqh.2	-	13	2591	c.1832G>A	c.(1831-1833)CGG>CAG	p.R611Q	CLSTN1_uc001aqi.2_Missense_Mutation_p.R601Q|CLSTN1_uc010oag.1_Missense_Mutation_p.R592Q|CLSTN1_uc001aqf.2_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	611	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)		GGGGAACTGCCGGGAGTTCAG	0.527												
C1orf158	93190	broad.mit.edu	37	1	12806445	12806445	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:12806445T>C	uc001auh.2	+	1	283	c.67T>C	c.(67-69)TCA>CCA	p.S23P	C1orf158_uc010obe.1_Missense_Mutation_p.S23P	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	hypothetical protein LOC93190	23										ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GACCAAGTATTCAACGAAAGT	0.478												
SPEN	23013	broad.mit.edu	37	1	16258904	16258904	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:16258904A>G	uc001axk.1	+	11	6373	c.6169A>G	c.(6169-6171)ACC>GCC	p.T2057A	SPEN_uc010obp.1_Missense_Mutation_p.T2016A	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2057					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)		CCCCCCTGAAACCGCCCCTGT	0.493												
UBR4	23352	broad.mit.edu	37	1	19449413	19449413	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:19449413G>A	uc001bbi.2	-	66	9734	c.9730C>T	c.(9730-9732)CTA>TTA	p.L3244L	UBR4_uc001bbk.1_Silent_p.L891L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3244					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)		TGCTCTTCTAGCAGCTTCTTG	0.562												
C1QC	714	broad.mit.edu	37	1	22974057	22974057	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:22974057G>A	uc001bgc.3	+	3	622	c.519G>A	c.(517-519)TCG>TCA	p.S173S	C1QC_uc001bga.3_Silent_p.S173S|C1QC_uc001bgb.2_Silent_p.S173S	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	173	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCACGCGTCGCATACAGCCA	0.582												
LUZP1	7798	broad.mit.edu	37	1	23418649	23418649	+	Silent	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:23418649G>T	uc001bgk.2	-	4	2490	c.2106C>A	c.(2104-2106)ACC>ACA	p.T702T	LUZP1_uc010odv.1_Silent_p.T702T|LUZP1_uc001bgl.2_Silent_p.T702T|LUZP1_uc001bgm.1_Silent_p.T702T	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	702						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CAAATAGGGAGGTTCTAGGTG	0.468												
IL28RA	163702	broad.mit.edu	37	1	24484052	24484052	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:24484052G>A	uc001bis.2	-	7	1144	c.1131C>T	c.(1129-1131)AGC>AGT	p.S377S	IL28RA_uc001bir.2_Silent_p.S348S|IL28RA_uc001bit.2_3'UTR|IL28RA_uc001biu.2_Silent_p.S293S	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	interleukin 28 receptor, alpha isoform 1	377	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|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;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		AGGAGCCTTCGCTTGGGACCA	0.622												
RUNX3	864	broad.mit.edu	37	1	25254159	25254159	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:25254159C>A	uc001bjq.2	-	2	756	c.345G>T	c.(343-345)GAG>GAT	p.E115D	RUNX3_uc010oen.1_Missense_Mutation_p.E115D|RUNX3_uc009vrj.2_Missense_Mutation_p.E129D|RUNX3_uc001bjr.2_Missense_Mutation_p.E129D	NM_004350	NP_004341	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 2	115	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CGGAGTAGTTCTCGTCATTGC	0.627												
SEPN1	57190	broad.mit.edu	37	1	26135608	26135608	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:26135608C>A	uc010oer.1	+	8	894	c.839C>A	c.(838-840)GCC>GAC	p.A280D	SEPN1_uc010oes.1_Missense_Mutation_p.A246D	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	280						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGACTGCCATCAGCGAC	0.627												
CATSPER4	378807	broad.mit.edu	37	1	26524495	26524495	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:26524495G>A	uc010oez.1	+	5	605	c.605G>A	c.(604-606)CGG>CAG	p.R202Q	CATSPER4_uc010oey.1_Missense_Mutation_p.R24Q|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	202	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTCGCCCGGATCATCCGC	0.652												
DHDDS	79947	broad.mit.edu	37	1	26795537	26795537	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:26795537G>A	uc001bml.2	+	9	1038	c.917G>A	c.(916-918)CGG>CAG	p.R306Q	DHDDS_uc001bmk.2_Missense_Mutation_p.R307Q|DHDDS_uc001bmm.2_Missense_Mutation_p.R213Q|DHDDS_uc001bmn.2_Missense_Mutation_p.R267Q|DHDDS_uc010ofd.1_Missense_Mutation_p.R272Q|uc001bmo.1_5'Flank	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b	306							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCGGCCAGACGGGAAGAGCGA	0.637												
SDC3	9672	broad.mit.edu	37	1	31349853	31349853	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:31349853G>A	uc001bse.2	-	3	463	c.416C>T	c.(415-417)GCC>GTC	p.A139V	SDC3_uc001bsd.2_Missense_Mutation_p.A81V	NM_014654	NP_055469	O75056	SDC3_HUMAN	syndecan 3	139	Extracellular (Potential).|Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCTGGTGGCTGGCTCCAG	0.652												
KPNA6	23633	broad.mit.edu	37	1	32628122	32628122	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:32628122T>C	uc001bug.2	+	9	996	c.908T>C	c.(907-909)CTG>CCG	p.L303P	KPNA6_uc001buh.2_Missense_Mutation_p.L78P|KPNA6_uc010ogx.1_Missense_Mutation_p.L300P|KPNA6_uc010ogy.1_Missense_Mutation_p.L308P|KPNA6_uc009vtz.2_Missense_Mutation_p.L198P	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	303	ARM 6.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTAGAGCTGCTGATGTGAGTG	0.353												
TRIM62	55223	broad.mit.edu	37	1	33623854	33623854	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:33623854C>A	uc001bxb.2	-	4	1515	c.877G>T	c.(877-879)GTG>TTG	p.V293L		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	293	B30.2/SPRY.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				CATGCCTTACCTGGGTGGATG	0.567												
NCDN	23154	broad.mit.edu	37	1	36031043	36031043	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:36031043G>A	uc001bza.2	+	8	2096	c.1969G>A	c.(1969-1971)GCT>ACT	p.A657T	NCDN_uc001bzb.2_Missense_Mutation_p.A657T|NCDN_uc001bzc.2_Missense_Mutation_p.A640T	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	657					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTGGCCCCCGCTGCCCTGCG	0.677												
EIF2C4	192670	broad.mit.edu	37	1	36306800	36306800	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:36306800G>T	uc001bzj.1	+	14	1949	c.1759G>T	c.(1759-1761)GGA>TGA	p.G587*		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	587	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATCTTCCTGGGAGCGGATGT	0.532												
EIF2C3	192669	broad.mit.edu	37	1	36520603	36520603	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:36520603A>G	uc001bzp.2	+	18	2587	c.2331A>G	c.(2329-2331)GCA>GCG	p.A777A	EIF2C3_uc001bzq.2_Silent_p.A543A	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	777	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTTTACTGCAGATGAACTTC	0.433												
HEYL	26508	broad.mit.edu	37	1	40098329	40098329	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:40098329G>A	uc001cdp.2	-	2	190	c.139C>T	c.(139-141)CGC>TGC	p.R47C	HEYL_uc010oiw.1_Missense_Mutation_p.H19Y	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	hairy/enhancer-of-split related with YRPW	47	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).|Basic motif.				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACCCCTCTGTGTTTCTTCCTG	0.567												
HPCAL4	51440	broad.mit.edu	37	1	40149756	40149756	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:40149756G>A	uc001cdr.2	-	3	351	c.231C>T	c.(229-231)GAC>GAT	p.D77D	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	77	EF-hand 2.|1 (Potential).				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGATGGTGCCGTCGCCGTTCT	0.647												
RLF	6018	broad.mit.edu	37	1	40705239	40705239	+	Missense_Mutation	SNP	G	G	A	rs150236303		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:40705239G>A	uc001cfc.3	+	8	4896	c.4865G>A	c.(4864-4866)CGC>CAC	p.R1622H	RLF_uc001cfd.3_Missense_Mutation_p.R1313H	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1622					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GAATCAGAGCGCACAGAACAC	0.463												
RIMKLA	284716	broad.mit.edu	37	1	42880412	42880412	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:42880412C>A	uc001chi.2	+	5	1081	c.943C>A	c.(943-945)CCA>ACA	p.P315T		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	315					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						GGCTGTCCTCCCAGGACTGTC	0.532												
ZSWIM5	57643	broad.mit.edu	37	1	45484698	45484698	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:45484698T>C	uc001cnd.2	-	14	3214	c.2986A>G	c.(2986-2988)ACC>GCC	p.T996A		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	996							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					TGTGAATGGGTCATACCACCA	0.552											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZFYVE9	9372	broad.mit.edu	37	1	52705193	52705193	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:52705193G>A	uc001cto.2	+	4	2276	c.2104G>A	c.(2104-2106)GCT>ACT	p.A702T	ZFYVE9_uc001ctn.2_Missense_Mutation_p.A702T|ZFYVE9_uc001ctp.2_Missense_Mutation_p.A702T	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	702	FYVE-type.				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						GGATTCTCAGGCTCCAAATTG	0.473												
ZCCHC11	23318	broad.mit.edu	37	1	52911986	52911986	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:52911986C>T	uc001ctx.2	-	22	3876	c.3642G>A	c.(3640-3642)CTG>CTA	p.L1214L	ZCCHC11_uc001cty.2_Silent_p.L1214L|ZCCHC11_uc001ctz.2_Silent_p.L1214L|ZCCHC11_uc009vze.1_Silent_p.L1214L|ZCCHC11_uc009vzf.1_Silent_p.L935L|ZCCHC11_uc001cua.1_Silent_p.L131L	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1214	PAP-associated 2.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						AAGTTGTCAACAGCTTTTTCT	0.388												
TTC4	7268	broad.mit.edu	37	1	55197241	55197241	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:55197241G>T	uc001cxx.3	+	7	817	c.764G>T	c.(763-765)GGA>GTA	p.G255V	C1orf175_uc001cxq.2_Intron|TTC4_uc001cxw.3_Intron|TTC4_uc001cxv.2_Missense_Mutation_p.G266V	NM_004623	NP_004614	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	255							binding				0						TTCCTGGATGGACTCAGCACT	0.542												
C1orf177	163747	broad.mit.edu	37	1	55273338	55273338	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:55273338C>T	uc001cyb.3	+	3	386	c.332C>T	c.(331-333)GCC>GTC	p.A111V	C1orf177_uc001cya.3_Missense_Mutation_p.A111V	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	111											0						CAGTACCAGGCCATCATGAAA	0.607												
EFCAB7	84455	broad.mit.edu	37	1	63998360	63998360	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:63998360G>A	uc001dbf.2	+	4	713	c.419G>A	c.(418-420)CGA>CAA	p.R140Q		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	140	EF-hand 2.						calcium ion binding				0						AAGATGACTCGAGAAGAAGTA	0.323												
NEGR1	257194	broad.mit.edu	37	1	72241870	72241870	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:72241870G>A	uc001dfw.2	-	3	620	c.520C>T	c.(520-522)CAC>TAC	p.H174Y	NEGR1_uc001dfv.2_Missense_Mutation_p.H46Y|NEGR1_uc010oqs.1_Missense_Mutation_p.H174Y	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	174	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGGGAGATGTGTCGCCAAGAA	0.423												
CCBL2	56267	broad.mit.edu	37	1	89408705	89408705	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:89408705G>A	uc001dmp.2	-	13	1662	c.1285C>T	c.(1285-1287)CGT>TGT	p.R429C	CCBL2_uc001dmq.2_Missense_Mutation_p.R395C|CCBL2_uc001dmr.2_Missense_Mutation_p.R265C	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN	kynurenine aminotransferase III isoform 1	429		Substrate (By similarity).			biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			ovary(1)	1		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AAGCAAAAACGCACAAACTTC	0.294												
GBP5	115362	broad.mit.edu	37	1	89730595	89730595	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:89730595G>T	uc001dnc.2	-	8	1460	c.923C>A	c.(922-924)CCT>CAT	p.P308H	GBP5_uc001dnd.2_Missense_Mutation_p.P308H|GBP5_uc001dne.1_Missense_Mutation_p.P308H	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	308						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTCTATGCAAGGCAGATCCCC	0.468												
GBP5	115362	broad.mit.edu	37	1	89732816	89732816	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:89732816T>C	uc001dnc.2	-	6	986	c.449A>G	c.(448-450)GAT>GGT	p.D150G	GBP5_uc001dnd.2_Missense_Mutation_p.D150G|GBP5_uc001dne.1_Missense_Mutation_p.D150G	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	150						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTTGAGCAGATCTGTCAGTTC	0.448												
LRRC8D	55144	broad.mit.edu	37	1	90399510	90399510	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:90399510C>T	uc001dnm.2	+	3	1308	c.883C>T	c.(883-885)CGT>TGT	p.R295C	LRRC8D_uc001dnn.2_Missense_Mutation_p.R295C	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	295						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GAGGAAGTTCCGTGCCCATGT	0.428												
TGFBR3	7049	broad.mit.edu	37	1	92184955	92184955	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:92184955T>C	uc001doh.2	-	10	1946	c.1480A>G	c.(1480-1482)ACA>GCA	p.T494A	TGFBR3_uc009wde.2_Missense_Mutation_p.T271A|TGFBR3_uc010osy.1_Missense_Mutation_p.T452A|TGFBR3_uc001doi.2_Missense_Mutation_p.T493A|TGFBR3_uc001doj.2_Missense_Mutation_p.T493A	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	494	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ACAAAGTGTGTGCCATTCATC	0.532												
RPAP2	79871	broad.mit.edu	37	1	92811469	92811469	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:92811469A>G	uc001dot.2	+	11	1795	c.1686A>G	c.(1684-1686)TCA>TCG	p.S562S	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	562	Helical; (Potential).					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TGTTGCTGTCATTGTAAGTAC	0.323												
ABCA4	24	broad.mit.edu	37	1	94476454	94476454	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:94476454C>A	uc001dqh.2	-	40	5720	c.5616G>T	c.(5614-5616)TGG>TGT	p.W1872C	ABCA4_uc001dqi.1_5'UTR|ABCA4_uc009wdp.1_Missense_Mutation_p.W140C	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1872					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAATCAGGTCCCAGTGGAACG	0.582												
DPH5	51611	broad.mit.edu	37	1	101456138	101456138	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:101456138G>A	uc001dts.2	-	8	831	c.684C>T	c.(682-684)GAC>GAT	p.D228D	DPH5_uc001dtr.2_Silent_p.D227D|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Silent_p.D228D|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Nonsense_Mutation_p.R193*|DPH5_uc001dty.2_Silent_p.D107D|DPH5_uc001dtz.2_RNA	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	diphthine synthase isoform a	228					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity				0		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TTTTCTGGTCGTCGGCTCCAA	0.443												
NTNG1	22854	broad.mit.edu	37	1	107691419	107691419	+	Silent	SNP	G	G	A	rs147345058	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:107691419G>A	uc001dvh.3	+	2	922	c.204G>A	c.(202-204)CCG>CCA	p.P68P	NTNG1_uc001dvf.3_Silent_p.P68P|NTNG1_uc010out.1_Silent_p.P68P|NTNG1_uc001dvc.3_Silent_p.P68P|NTNG1_uc001dvd.1_Silent_p.P68P	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	68	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TCGATCCTCCGGATATTACCT	0.438												
EPS8L3	79574	broad.mit.edu	37	1	110301215	110301215	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:110301215T>C	uc001dyr.1	-	7	677	c.532A>G	c.(532-534)ATG>GTG	p.M178V	EPS8L3_uc001dys.1_Missense_Mutation_p.M178V|EPS8L3_uc001dyq.1_Missense_Mutation_p.M179V|EPS8L3_uc009wfm.1_Missense_Mutation_p.M145V|EPS8L3_uc009wfn.1_Missense_Mutation_p.M145V|EPS8L3_uc009wfo.1_Missense_Mutation_p.M125V	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	178	Pro-rich.					cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCCTGCTCCATAGGGAGCGGC	0.617												
C1orf103	55791	broad.mit.edu	37	1	111490937	111490937	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:111490937C>T	uc001eaa.2	-	4	2210	c.1954G>A	c.(1954-1956)GCA>ACA	p.A652T	C1orf103_uc001dzz.2_Missense_Mutation_p.A116T|C1orf103_uc001eab.2_Missense_Mutation_p.A116T|C1orf103_uc001eac.1_Missense_Mutation_p.A115T	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		TTTATGATTGCGTTATAAGCA	0.348												
DDX20	11218	broad.mit.edu	37	1	112308658	112308658	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:112308658T>C	uc001ebs.2	+	11	1969	c.1612T>C	c.(1612-1614)TGT>CGT	p.C538R	DDX20_uc010owf.1_Missense_Mutation_p.C300R|DDX20_uc001ebt.2_Missense_Mutation_p.C146R	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	538	SMN interacting.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAACTGGGCTGTGACAGGCA	0.418												
SPAG17	200162	broad.mit.edu	37	1	118609480	118609480	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:118609480A>G	uc001ehk.2	-	18	2496	c.2428T>C	c.(2428-2430)TAC>CAC	p.Y810H		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	810						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTGTGGTAGTAAGAATCAACA	0.363												
GJA8	2703	broad.mit.edu	37	1	147380281	147380281	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:147380281G>A	uc001epu.1	+	2	262	c.199G>A	c.(199-201)GAC>AAC	p.D67N		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	67	Extracellular (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					CGTCTGCTACGACGAGGCCTT	0.612												
HIST2H2BF	440689	broad.mit.edu	37	1	149398890	149398890	+	RNA	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:149398890G>A	uc010pbi.1	-	1		c.340C>T						Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H3, pseudogene 2, mRNA (cDNA clone IMAGE:5190019).						nucleosome assembly	nucleosome|nucleus	DNA binding				0	Breast(34;0.0124)|all_hematologic(923;0.127)					GCGCACGGCCGTCTGGATCTC	0.647												
POGZ	23126	broad.mit.edu	37	1	151378226	151378226	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:151378226C>A	uc001eyd.1	-	19	3591	c.3285G>T	c.(3283-3285)AAG>AAT	p.K1095N	POGZ_uc001eye.1_Missense_Mutation_p.K1042N|POGZ_uc010pdb.1_Missense_Mutation_p.K1086N|POGZ_uc001eyf.1_Missense_Mutation_p.K1051N|POGZ_uc010pdc.1_Missense_Mutation_p.K1033N|POGZ_uc009wmv.1_Missense_Mutation_p.K1000N|POGZ_uc010pdd.1_Missense_Mutation_p.K586N	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1095				TLPKDVAENAGLFIDF -> PTLLFCLFVFSSPSTL (in Ref. 4; BAB87117/BAE45744).	cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			CTGCTACATCCTTAGGTAGGG	0.512												
TCHH	7062	broad.mit.edu	37	1	152080709	152080709	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:152080709G>A	uc001ezp.2	-	2	4984	c.4984C>T	c.(4984-4986)CGT>TGT	p.R1662C	TCHH_uc009wne.1_Missense_Mutation_p.R1662C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1662	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGTCGTGACGCAGCTGTTGT	0.597												
FLG	2312	broad.mit.edu	37	1	152277576	152277576	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:152277576G>A	uc001ezu.1	-	3	9822	c.9786C>T	c.(9784-9786)GCC>GCT	p.A3262A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3262	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCGTGACCGGCTCTGTCTT	0.582									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152280923	152280923	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:152280923C>G	uc001ezu.1	-	3	6475	c.6439G>C	c.(6439-6441)GGA>CGA	p.G2147R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2147	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTTCCTCCTCTGCTTGGC	0.567									Ichthyosis			
LOR	4014	broad.mit.edu	37	1	153233517	153233517	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:153233517G>A	uc001fbm.2	+	2	146	c.92G>A	c.(91-93)GGT>GAT	p.G31D		NM_000427	NP_000418	P23490	LORI_HUMAN	loricrin	31					keratinization|peptide cross-linking	cornified envelope|cytoplasm|insoluble fraction|nucleoplasm	protein binding, bridging|structural constituent of cytoskeleton				0	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggcagcggcggtggtggctgc	0.184												
PGLYRP3	114771	broad.mit.edu	37	1	153270514	153270514	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:153270514C>T	uc001fbn.1	-	7	997	c.944G>A	c.(943-945)GGC>GAC	p.G315D		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	315					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACTGTGGCCCATCAGCAG	0.577												
ILF2	3608	broad.mit.edu	37	1	153642708	153642708	+	Splice_Site	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:153642708T>C	uc001fcr.2	-	2	87	c.6_splice	c.e2-1	p.R2_splice	ILF2_uc010pdy.1_Splice_Site|ILF2_uc009wok.2_Splice_Site_p.R2_splice|ILF2_uc009wol.1_Splice_Site	NM_004515	NP_004506	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2						immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTCACCCCTAGAAATGCAG	0.522												
DENND4B	9909	broad.mit.edu	37	1	153907329	153907329	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:153907329G>A	uc001fdd.1	-	18	3081	c.2680C>T	c.(2680-2682)CGG>TGG	p.R894W	uc001fdc.1_RNA	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	894	Gln-rich.									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)			tgctgttgcCGTTCTCTCAAG	0.463												
ATP8B2	57198	broad.mit.edu	37	1	154318321	154318321	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:154318321A>C	uc001fex.2	+	24	2839	c.2839A>C	c.(2839-2841)ACC>CCC	p.T947P		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	933	Helical; (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCGTGTACACCTCCCTGCC	0.507												
RXFP4	339403	broad.mit.edu	37	1	155911718	155911718	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:155911718G>A	uc010pgs.1	+	1	239	c.218G>A	c.(217-219)GGC>GAC	p.G73D		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	relaxin 3 receptor 2	73	Cytoplasmic (Potential).					integral to membrane|plasma membrane	angiotensin type II receptor activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGAGCCCCTGGCCCACCTTCA	0.612												
SMG5	23381	broad.mit.edu	37	1	156235649	156235649	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:156235649T>C	uc001foc.3	-	12	1927	c.1778A>G	c.(1777-1779)CAG>CGG	p.Q593R	SMG5_uc009wrv.2_Missense_Mutation_p.Q78R	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	593					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					GGTGGTGGGCTGGAGGAGCAG	0.567												
SMG5	23381	broad.mit.edu	37	1	156235910	156235910	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:156235910G>A	uc001foc.3	-	12	1666	c.1517C>T	c.(1516-1518)ACG>ATG	p.T506M	SMG5_uc009wrv.2_Translation_Start_Site	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	506					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					ATCAAAGGCCGTTCCCCCACC	0.552												
APOA1BP	128240	broad.mit.edu	37	1	156563292	156563292	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:156563292C>T	uc001fph.2	+	5	648	c.609C>T	c.(607-609)ATC>ATT	p.I203I	APOA1BP_uc001fpg.2_Silent_p.I203I|APOA1BP_uc001fpi.2_Missense_Mutation_p.P185S|APOA1BP_uc001fpj.2_Silent_p.I120I|APOA1BP_uc001fpk.2_Silent_p.I100I|APOA1BP_uc010php.1_Silent_p.I100I	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	203	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCACAGCATCCTGAGTGTCC	0.572												
PEAR1	375033	broad.mit.edu	37	1	156875185	156875185	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:156875185T>C	uc001fqj.1	+	4	392	c.276T>C	c.(274-276)CAT>CAC	p.H92H	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	92	EMI.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTGCTGCCATGGCTTCTATG	0.637												
CD5L	922	broad.mit.edu	37	1	157804431	157804431	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:157804431C>T	uc001frk.3	-	4	627	c.484G>A	c.(484-486)GTG>ATG	p.V162M		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	162	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTCTGGCACACGGTATACCAC	0.617												
CD1D	912	broad.mit.edu	37	1	158152844	158152844	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:158152844T>C	uc001frr.2	+	5	1283	c.784T>C	c.(784-786)TAT>CAT	p.Y262H	CD1D_uc009wss.2_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	262	Ig-like.|Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					CGAGACATGGTATCTCCGAGC	0.602												
SPTA1	6708	broad.mit.edu	37	1	158632648	158632648	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:158632648A>G	uc001fst.1	-	17	2507	c.2308T>C	c.(2308-2310)TCC>CCC	p.S770P		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	770	Spectrin 8.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CATACCAAGGACTCTTGCCTT	0.458												
OR6K3	391114	broad.mit.edu	37	1	158687066	158687066	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:158687066A>G	uc010pip.1	-	1	888	c.888T>C	c.(886-888)CTT>CTC	p.L296L		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	296	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					AGAATGGAGCAAGTACAGTAA	0.408												
DCAF8	50717	broad.mit.edu	37	1	160208501	160208501	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:160208501C>T	uc001fvo.2	-	5	1072	c.760G>A	c.(760-762)GCC>ACC	p.A254T	DCAF8_uc001fvn.2_Missense_Mutation_p.A254T|DCAF8_uc009wth.2_Missense_Mutation_p.A254T|DCAF8_uc010pjb.1_Missense_Mutation_p.A254T|DCAF8_uc010pjc.1_Missense_Mutation_p.A408T|uc010pjd.1_5'Flank	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	254	WD 2.					CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2						GCACACATGGCCAGAGTAGAA	0.473												
B4GALT3	8703	broad.mit.edu	37	1	161143511	161143511	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:161143511C>T	uc001fyq.1	-	6	949	c.687G>A	c.(685-687)CCG>CCA	p.P229P	PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Silent_p.P9P|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Silent_p.P229P|B4GALT3_uc001fys.1_Silent_p.P229P|B4GALT3_uc009wud.1_3'UTR	NM_003779	NP_003770	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	229	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity				0	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	ACTGGGGGTACGGGAGGCTAG	0.552												
FCRLB	127943	broad.mit.edu	37	1	161695837	161695837	+	Silent	SNP	C	C	T	rs3738330		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:161695837C>T	uc001gbh.2	+	6	768	c.534C>T	c.(532-534)AGC>AGT	p.S178S	FCRLB_uc009wus.2_Silent_p.S178S|FCRLB_uc001gbj.2_Silent_p.S178S|FCRLB_uc001gbk.2_Silent_p.S178S|FCRLB_uc001gbl.2_Silent_p.S171S|FCRLB_uc001gbm.2_Silent_p.S171S|FCRLB_uc001gbi.2_Silent_p.S178S|FCRLB_uc001gbn.3_5'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	178	Ig-like C2-type 2.					endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CGGTGGAGAGCGCGCCCATGT	0.627											OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HSD17B7	51478	broad.mit.edu	37	1	162769680	162769680	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:162769680G>A	uc001gci.2	+	5	690	c.595G>A	c.(595-597)GCC>ACC	p.A199T	HSD17B7_uc009wuv.2_RNA	NM_016371	NP_057455	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	199	Extracellular (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			ovary(1)	1	all_hematologic(112;0.115)				NADH(DB00157)	TTCCAAATATGCCACTGACCT	0.483												
RXRG	6258	broad.mit.edu	37	1	165386448	165386448	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:165386448T>C	uc001gda.2	-	4	752	c.452A>G	c.(451-453)TAC>TGC	p.Y151C		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	151	NR C4-type.|Nuclear receptor.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GTATACCCCGTAGTGCTTTCC	0.428												
SLC19A2	10560	broad.mit.edu	37	1	169446496	169446496	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:169446496C>T	uc001gge.3	-	2	908	c.704G>A	c.(703-705)GGT>GAT	p.G235D	SLC19A2_uc001ggf.3_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	235	Cytoplasmic (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)					AACAATGCCACCATTTTGTAC	0.488												
MYOC	4653	broad.mit.edu	37	1	171605701	171605701	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:171605701C>T	uc001ghu.2	-	3	901	c.879G>A	c.(877-879)ACG>ACA	p.T293T	MYOC_uc010pmk.1_Silent_p.T235T	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	293	Olfactomedin-like.		T -> K (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGCGGACATCCGTGCCAACTG	0.537												
IVNS1ABP	10625	broad.mit.edu	37	1	185267231	185267231	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:185267231G>A	uc001grl.2	-	15	2488	c.1865C>T	c.(1864-1866)ACG>ATG	p.T622M	IVNS1ABP_uc001gri.2_Missense_Mutation_p.T282M|IVNS1ABP_uc001grj.2_Missense_Mutation_p.T282M|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.T404M|IVNS1ABP_uc009wyk.2_RNA	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	622	Kelch 6.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5						GACTTCCACCGTATTCAGAAA	0.408												
HMCN1	83872	broad.mit.edu	37	1	185892699	185892699	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:185892699C>A	uc001grq.1	+	8	1428	c.1199C>A	c.(1198-1200)GCT>GAT	p.A400D		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	400					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CCAAATGAAGCTTTCTTTCTC	0.358												
PRG4	10216	broad.mit.edu	37	1	186275472	186275472	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:186275472A>T	uc001gru.3	+	7	672	c.621A>T	c.(619-621)AGA>AGT	p.R207S	PRG4_uc001grt.3_Missense_Mutation_p.R166S|PRG4_uc009wyl.2_Missense_Mutation_p.R114S|PRG4_uc009wym.2_Missense_Mutation_p.R73S|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	207					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AGAAGAACAGAACTAAAAAGA	0.323												
RGS18	64407	broad.mit.edu	37	1	192128397	192128397	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:192128397A>T	uc001gsg.2	+	2	343	c.167A>T	c.(166-168)GAG>GTG	p.E56V		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	56					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3						CAGAAACCTGAGTTTCATGAA	0.373												
KIF21B	23046	broad.mit.edu	37	1	200973959	200973959	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:200973959G>A	uc001gvs.1	-	6	1152	c.835C>T	c.(835-837)CGG>TGG	p.R279W	KIF21B_uc001gvr.1_Missense_Mutation_p.R279W|KIF21B_uc009wzl.1_Missense_Mutation_p.R279W|KIF21B_uc010ppn.1_Missense_Mutation_p.R279W|KIF21B_uc001gvt.1_Missense_Mutation_p.R62W	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	279	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CGCTTCAGCCGCTCTGAGCCG	0.602												
CACNA1S	779	broad.mit.edu	37	1	201058527	201058527	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:201058527C>T	uc001gvv.2	-	6	986	c.759G>A	c.(757-759)CGG>CGA	p.R253R		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	253	Extracellular (Potential).|I.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGATGGTGCACCGGCGCCCTG	0.622												
DSTYK	25778	broad.mit.edu	37	1	205117339	205117339	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:205117339G>A	uc001hbw.2	-	12	2660	c.2596C>T	c.(2596-2598)CGG>TGG	p.R866W	DSTYK_uc001hbx.2_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	866	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						TTACCCCTCCGCACATTGTTC	0.532												
C4BPB	725	broad.mit.edu	37	1	207269950	207269950	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:207269950T>C	uc001hfj.2	+	5	623	c.493T>C	c.(493-495)TGT>CGT	p.C165R	C4BPB_uc001hfi.2_Missense_Mutation_p.C164R|C4BPB_uc001hfk.2_Missense_Mutation_p.C164R|C4BPB_uc001hfl.2_Missense_Mutation_p.C165R|C4BPB_uc009xcd.2_Missense_Mutation_p.C216R|C4BPB_uc001hfm.2_Missense_Mutation_p.C165R	NM_001017365	NP_001017365	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	165	Sushi 3.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				ovary(1)	1						TAGTTATTACTGTGAAGACAG	0.463												
RD3	343035	broad.mit.edu	37	1	211652526	211652526	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:211652526C>T	uc001him.2	-	3	1604	c.440G>A	c.(439-441)CGC>CAC	p.R147H	RD3_uc001hin.2_RNA|RD3_uc009xda.2_RNA	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	147					response to stimulus|visual perception					ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CAGGCTGCCGCGGGGCCGCAG	0.687												
SLC30A1	7779	broad.mit.edu	37	1	211748999	211748999	+	Missense_Mutation	SNP	G	G	A	rs148119372		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:211748999G>A	uc001hio.1	-	2	1400	c.1255C>T	c.(1255-1257)CCT>TCT	p.P419S		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter),	419	Cytoplasmic (Potential).				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		GCAAATTCAGGCTGAATGGTA	0.423												
HLX	3142	broad.mit.edu	37	1	221053526	221053526	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:221053526G>A	uc001hmv.3	+	1	784	c.327G>A	c.(325-327)CCG>CCA	p.P109P		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	109	Pro-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		CTGGCTTCCCGCAGCGGCTGT	0.572												
DISP1	84976	broad.mit.edu	37	1	223177225	223177225	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:223177225A>G	uc001hnu.1	+	8	2633	c.2486A>G	c.(2485-2487)CAC>CGC	p.H829R		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	829					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TGGATTTTGCACTTCTGTCAA	0.433												
TLR5	7100	broad.mit.edu	37	1	223286273	223286273	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:223286273C>T	uc001hnv.1	-	4	547	c.101G>A	c.(100-102)CGT>CAT	p.R34H	TLR5_uc001hnw.1_Missense_Mutation_p.R34H	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	34	Extracellular (Potential).				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		GTTGCAGAAACGATAAAAGGC	0.542												
OBSCN	84033	broad.mit.edu	37	1	228475418	228475418	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:228475418G>A	uc009xez.1	+	36	9612	c.9568G>A	c.(9568-9570)GCC>ACC	p.A3190T	OBSCN_uc001hsn.2_Missense_Mutation_p.A3190T|OBSCN_uc001hsq.1_Missense_Mutation_p.A446T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3190	Ig-like 32.				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)				GTTCCAGGAGGCCCTGAAGGA	0.637												
OBSCN	84033	broad.mit.edu	37	1	228554800	228554800	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:228554800G>A	uc009xez.1	+	86	19596	c.19552G>A	c.(19552-19554)GCG>ACG	p.A6518T	OBSCN_uc001hsr.1_Missense_Mutation_p.A1147T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6518	Protein kinase 1.				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)				CATCCTGGCCGCGCTGAGCCA	0.612												
EXOC8	149371	broad.mit.edu	37	1	231471552	231471552	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:231471552A>G	uc001huq.2	-	1	2027	c.1940T>C	c.(1939-1941)CTG>CCG	p.L647P		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	647					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GATTTCCACCAGGCTCTCCAA	0.453												
NID1	4811	broad.mit.edu	37	1	236228195	236228195	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:236228195G>A	uc001hxo.2	-	1	287	c.185C>T	c.(184-186)GCG>GTG	p.A62V	NID1_uc009xgd.2_Missense_Mutation_p.A62V|uc001hxp.1_Silent_p.A112A	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	62					cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GAAGCGGAGCGCCCCACTCAG	0.597												
ZP4	57829	broad.mit.edu	37	1	238048859	238048859	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:238048859T>C	uc001hym.2	-	8	992	c.992A>G	c.(991-993)TAC>TGC	p.Y331C	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	331	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACCAACACCGTAGTAAGAGCC	0.483												
KIF26B	55083	broad.mit.edu	37	1	245704075	245704075	+	Silent	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:245704075C>A	uc001ibf.1	+	5	1613	c.1173C>A	c.(1171-1173)GCC>GCA	p.A391A	KIF26B_uc010pyq.1_Silent_p.A391A|KIF26B_uc001ibg.1_Silent_p.A9A	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	391					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCAGAGCTGCCCAGAAGTTAA	0.453												
OR2M3	127062	broad.mit.edu	37	1	248367276	248367276	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:248367276A>G	uc010pzg.1	+	1	907	c.907A>G	c.(907-909)AAG>GAG	p.K303E		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCATTCATGAAGATCTTAGG	0.423												
ZMYND11	10771	broad.mit.edu	37	10	255850	255850	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:255850T>C	uc010pzt.1	+	3	566	c.138T>C	c.(136-138)GGT>GGC	p.G46G	ZMYND11_uc001ifk.2_Silent_p.G46G|ZMYND11_uc010pzu.1_Silent_p.G46G|ZMYND11_uc010pzv.1_Silent_p.G46G|ZMYND11_uc010pzw.1_Silent_p.G46G|ZMYND11_uc001ifm.2_Silent_p.G46G|ZMYND11_uc010pzx.1_Silent_p.G46G|ZMYND11_uc001ifn.2_Silent_p.G46G|ZMYND11_uc009xhg.2_Silent_p.G29G|ZMYND11_uc009xhh.2_5'UTR|ZMYND11_uc010pzy.1_5'UTR	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	6					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GAGTCCACGGTATGCACCCTA	0.393												
DIP2C	22982	broad.mit.edu	37	10	486873	486873	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:486873G>T	uc001ifp.2	-	4	422	c.332C>A	c.(331-333)CCT>CAT	p.P111H	DIP2C_uc009xhk.1_Missense_Mutation_p.L113I	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	111						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		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)		GGAAGGCATAGGCACTGCCAT	0.602												
ITIH2	3698	broad.mit.edu	37	10	7788613	7788613	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:7788613C>A	uc001ijs.2	+	20	2801	c.2639C>A	c.(2638-2640)CCT>CAT	p.P880H		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	880					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						GGAAAGGACCCTGAGAAGCCA	0.483												
USP6NL	9712	broad.mit.edu	37	10	11505504	11505504	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	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	11911830	11911830	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:11911830C>T	uc001ikx.2	+	4	887	c.733C>T	c.(733-735)CCG>TCG	p.P245S	uc001iky.1_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	hypothetical protein LOC254427	245	Pro-rich.									central_nervous_system(1)	1						GCCCAGCCACCCGGCGCAGCC	0.771												
ST8SIA6	338596	broad.mit.edu	37	10	17363280	17363280	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:17363280A>C	uc001ipd.2	-	8	794	c.794T>G	c.(793-795)TTT>TGT	p.F265C	ST8SIA6_uc010qce.1_RNA	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	265	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1						CAGAAGAAAAAATGCATCTCC	0.378												
PLXDC2	84898	broad.mit.edu	37	10	20432315	20432315	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:20432315C>T	uc001iqg.1	+	5	1270	c.633C>T	c.(631-633)TCC>TCT	p.S211S	PLXDC2_uc001iqh.1_Silent_p.S162S|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	211	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						CCAGTGTATCCAGAAATTCAA	0.353												
NEBL	10529	broad.mit.edu	37	10	21097514	21097514	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:21097514C>A	uc001iqi.2	-	26	3083	c.2686G>T	c.(2686-2688)GAC>TAC	p.D896Y	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	896	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TCTGACCTGTCGTCTCCGAGA	0.453												
NEBL	10529	broad.mit.edu	37	10	21139364	21139364	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:21139364G>A	uc001iqi.2	-	11	1473	c.1076C>T	c.(1075-1077)TCA>TTA	p.S359L	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	359	Nebulin 10.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						AGCTTGATATGATGGTGTCTC	0.303												
NEBL	10529	broad.mit.edu	37	10	21177122	21177122	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:21177122G>A	uc001iqi.2	-	4	670	c.273C>T	c.(271-273)GGC>GGT	p.G91G	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	91	Nebulin 2.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						CTTTAATGGTGCCTTTGTATT	0.343												
C10orf140	387640	broad.mit.edu	37	10	21805337	21805337	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:21805337C>T	uc009xkd.2	-	4	3668	c.1415G>A	c.(1414-1416)TGC>TAC	p.C472Y	uc001iqp.1_RNA	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	391						nucleus	nucleotide binding			ovary(1)	1						GGGAGGCTTGCAGAAGCTGGT	0.637												
GAD2	2572	broad.mit.edu	37	10	26506598	26506598	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:26506598G>A	uc001isp.2	+	2	639	c.136G>A	c.(136-138)GCC>ACC	p.A46T	GAD2_uc009xkr.2_Missense_Mutation_p.A46T|GAD2_uc001isq.2_Missense_Mutation_p.A46T	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	46					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	CAAACTGTGCGGTGAGTGCCC	0.642												
ZNF32	7580	broad.mit.edu	37	10	44139888	44139888	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:44139888T>C	uc001jbb.2	-	3	621	c.432A>G	c.(430-432)CAA>CAG	p.Q144Q	uc001jba.2_Intron|ZNF32_uc001jbc.2_Silent_p.Q144Q	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN	zinc finger protein 32	144	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GACTACCTCGTTGACTGAAGC	0.488												
GDF10	2662	broad.mit.edu	37	10	48429293	48429293	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:48429293C>T	uc001jfb.2	-	2	1049	c.593G>A	c.(592-594)CGC>CAC	p.R198H	GDF10_uc009xnp.2_Missense_Mutation_p.R197H|GDF10_uc009xnq.1_Missense_Mutation_p.R198H	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	198					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						CCACAGGCCGCGCGGTGGGGG	0.721												
NCOA4	8031	broad.mit.edu	37	10	51579211	51579211	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:51579211C>T	uc001jis.3	+	2	273	c.70C>T	c.(70-72)CGG>TGG	p.R24W	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.R40W|NCOA4_uc010qhd.1_Missense_Mutation_p.R40W|NCOA4_uc010qhe.1_Intron|NCOA4_uc010qhf.1_Intron|NCOA4_uc001jit.2_Missense_Mutation_p.R24W|NCOA4_uc009xoo.2_Missense_Mutation_p.R24W	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	24					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2						TAGTGATGCACGGAGGGACTT	0.448			T	RET	papillary thyroid 							
FAM13C	220965	broad.mit.edu	37	10	61022345	61022345	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:61022345A>C	uc001jkn.2	-	11	1219	c.1085T>G	c.(1084-1086)CTG>CGG	p.L362R	FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.L279R|FAM13C_uc010qie.1_Missense_Mutation_p.L279R|FAM13C_uc010qif.1_Missense_Mutation_p.L384R|FAM13C_uc001jkp.2_Missense_Mutation_p.L279R	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	362										ovary(2)	2						CTCACACAACAGGTTTCTAGG	0.502												
SLC16A9	220963	broad.mit.edu	37	10	61414261	61414261	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:61414261C>T	uc010qig.1	-	5	972	c.523G>A	c.(523-525)GGT>AGT	p.G175S		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	solute carrier family 16 (monocarboxylic acid	175	Helical; (Potential).				urate metabolic process	integral to membrane|plasma membrane	symporter activity			skin(2)|ovary(1)	3						GCTAAAGCACCCACAATCAGC	0.438												
ANK3	288	broad.mit.edu	37	10	61843307	61843307	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:61843307C>T	uc001jky.2	-	33	4335	c.4143G>A	c.(4141-4143)CAG>CAA	p.Q1381Q	ANK3_uc001jkw.2_Silent_p.Q515Q|ANK3_uc009xpa.2_Silent_p.Q515Q|ANK3_uc001jkx.2_Silent_p.Q559Q|ANK3_uc010qih.1_Silent_p.Q1382Q|ANK3_uc001jkz.3_Silent_p.Q1375Q|ANK3_uc001jla.1_Silent_p.Q447Q|ANK3_uc001jkv.2_5'Flank|ANK3_uc009xpb.1_5'Flank|ANK3_uc009xpc.1_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1381					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AAACAAGTTGCTGTCCTCCTT	0.313												
ZNF365	22891	broad.mit.edu	37	10	64425917	64425917	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:64425917A>C	uc001jmd.1	+	6	845	c.511A>C	c.(511-513)AAT>CAT	p.N171H	ZNF365_uc001jmc.2_Missense_Mutation_p.N417H|ZNF365_uc001jme.1_RNA|ZNF365_uc001jmf.1_RNA|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	171										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCAAAGCAGGAATATCAGCCT	0.388												
TET1	80312	broad.mit.edu	37	10	70446170	70446170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:70446170C>T	uc001jok.3	+	11	5615	c.5110C>T	c.(5110-5112)CAG>TAG	p.Q1704*		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1704					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TCAAGATGAGCAGCTCCATGT	0.453												
HK1	3098	broad.mit.edu	37	10	71129308	71129308	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:71129308G>A	uc001jpl.3	+	7	904	c.803G>A	c.(802-804)GGA>GAA	p.G268E	HK1_uc001jpg.3_Missense_Mutation_p.G256E|HK1_uc001jph.3_Missense_Mutation_p.G272E|HK1_uc001jpi.3_Missense_Mutation_p.G272E|HK1_uc001jpj.3_Missense_Mutation_p.G303E|HK1_uc001jpk.3_Missense_Mutation_p.G267E|HK1_uc009xqd.2_Missense_Mutation_p.G146E	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	268	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						GGAGACGATGGATCATTAGAA	0.493												
NEUROG3	50674	broad.mit.edu	37	10	71332527	71332527	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:71332527G>A	uc001jpp.2	-	2	431	c.273C>T	c.(271-273)CGC>CGT	p.R91R		NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	91	Basic motif.				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity				0						GATTGCGCTCGCGGTCGTTGG	0.662												
SEC24C	9632	broad.mit.edu	37	10	75529233	75529233	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:75529233G>T	uc001juw.2	+	19	2732	c.2553G>T	c.(2551-2553)ATG>ATT	p.M851I	SEC24C_uc009xrj.1_3'UTR|SEC24C_uc001jux.2_Missense_Mutation_p.M851I|SEC24C_uc010qko.1_Missense_Mutation_p.M732I|SEC24C_uc010qkp.1_Missense_Mutation_p.M99I|SEC24C_uc010qkq.1_Missense_Mutation_p.M99I|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.2_5'Flank	NM_004922	NP_004913	P53992	SC24C_HUMAN	SEC24-related protein C	851					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)					TCAACTACATGGCCAAGTTTG	0.552												
ACTA2	59	broad.mit.edu	37	10	90708573	90708573	+	Missense_Mutation	SNP	G	G	A	rs112901682		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:90708573G>A	uc001kfp.2	-	2	231	c.115C>T	c.(115-117)CGT>TGT	p.R39C	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Intron|ACTA2_uc001kfq.2_Missense_Mutation_p.R39C|ACTA2_uc010qmz.1_Missense_Mutation_p.R39C	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	39			R -> H (in AAT6).		response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TGTCTGGGACGTCCCACAATG	0.502												
IFIT1B	439996	broad.mit.edu	37	10	91143709	91143709	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:91143709T>C	uc001kgh.2	+	2	719	c.639T>C	c.(637-639)AAT>AAC	p.N213N	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	interferon-induced protein with	213	TPR 4.						binding				0						TCAGGCTAAATCCAGATGATG	0.448												
IDE	3416	broad.mit.edu	37	10	94294397	94294397	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:94294397A>G	uc001kia.2	-	3	505	c.429T>C	c.(427-429)AGT>AGC	p.S143S		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	143					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATGCTCTCCACTAGTAAAGG	0.378												
PLCE1	51196	broad.mit.edu	37	10	96013971	96013971	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:96013971G>A	uc001kjk.2	+	10	3938	c.3304G>A	c.(3304-3306)GAT>AAT	p.D1102N	PLCE1_uc010qnx.1_Missense_Mutation_p.D1102N|PLCE1_uc001kjm.2_Missense_Mutation_p.D794N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1102					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)				GGTAACTGACGATGAGATGGC	0.478												
NOC3L	64318	broad.mit.edu	37	10	96116929	96116929	+	Splice_Site	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:96116929A>G	uc001kjq.1	-	4	596	c.508_splice	c.e4+1	p.V170_splice	NOC3L_uc009xuk.1_Splice_Site	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog							nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				TATTAGACTCACCTGGCTTCT	0.338												
CUTC	51076	broad.mit.edu	37	10	101503026	101503026	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:101503026C>T	uc001kqd.3	+	4	458	c.310C>T	c.(310-312)CGT>TGT	p.R104C	CUTC_uc010qpk.1_Missense_Mutation_p.R104C|CUTC_uc001kqe.3_RNA	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	cutC copper transporter homolog	104					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)		GGCTGACATTCGTCTTGCCAA	0.443												
SFXN3	81855	broad.mit.edu	37	10	102798404	102798404	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:102798404G>A	uc001ksp.2	+	10	1244	c.788G>A	c.(787-789)CGC>CAC	p.R263H	SFXN3_uc001ksq.2_Missense_Mutation_p.R263H|SFXN3_uc010qpx.1_Missense_Mutation_p.R267H	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	263					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCACAGCGCCGCCCCTGGCTG	0.597											OREG0020454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KAZALD1	81621	broad.mit.edu	37	10	102824653	102824653	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:102824653T>G	uc001ksr.2	+	5	1816	c.891T>G	c.(889-891)AGT>AGG	p.S297R	KAZALD1_uc001kss.3_RNA|uc001ksu.2_5'Flank	NM_030929	NP_112191	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	297					cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding				0				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		AGGCTGAGAGTGAAGAGAATG	0.532												
HPS6	79803	broad.mit.edu	37	10	103826834	103826834	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:103826834C>T	uc001kuj.2	+	1	1688	c.1603C>T	c.(1603-1605)CTG>TTG	p.L535L		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	535						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GAATGGCAAGCTGAGGTCCCA	0.582									Hermansky-Pudlak_syndrome			
LDB1	8861	broad.mit.edu	37	10	103867975	103867975	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:103867975C>T	uc009xwz.2	-	11	1454	c.1111G>A	c.(1111-1113)GGC>AGC	p.G371S	LDB1_uc001kuk.3_Missense_Mutation_p.G335S	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	371	LIM-binding domain (LID) (By similarity).				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TCGTCAATGCCGTTGGCTGCG	0.617												
SORCS1	114815	broad.mit.edu	37	10	108924061	108924061	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:108924061C>T	uc001kym.2	-	1	232	c.224G>A	c.(223-225)CGT>CAT	p.R75H	SORCS1_uc001kyl.2_Missense_Mutation_p.R75H|SORCS1_uc009xxs.2_Missense_Mutation_p.R75H|SORCS1_uc001kyn.1_Missense_Mutation_p.R75H|SORCS1_uc001kyo.2_Missense_Mutation_p.R75H	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	75	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)		GAACAGGGGACGCACTACGAG	0.736												
SORCS1	114815	broad.mit.edu	37	10	108924097	108924097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:108924097C>T	uc001kym.2	-	1	196	c.188G>A	c.(187-189)GGC>GAC	p.G63D	SORCS1_uc001kyl.2_Missense_Mutation_p.G63D|SORCS1_uc009xxs.2_Missense_Mutation_p.G63D|SORCS1_uc001kyn.1_Missense_Mutation_p.G63D|SORCS1_uc001kyo.2_Missense_Mutation_p.G63D	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	63	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)		AGGAGCCCTGCCTGGCCGCCC	0.756												
RAB11FIP2	22841	broad.mit.edu	37	10	119805671	119805671	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:119805671T>G	uc001ldj.1	-	1	444	c.4A>C	c.(4-6)ATG>CTG	p.M2L	RAB11FIP2_uc009xyz.1_Missense_Mutation_p.M2L|CASC2_uc001ldm.3_5'Flank|CASC2_uc009xzc.2_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xza.2_5'Flank|CASC2_uc009xzb.2_5'Flank	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	2	C2.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)		TCGGACAGCATCATCCTGTCC	0.532												
FGFR2	2263	broad.mit.edu	37	10	123256201	123256201	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:123256201C>G	uc010qtk.1	-	14	2355	c.1708G>C	c.(1708-1710)GGC>CGC	p.G570R	FGFR2_uc010qtg.1_Missense_Mutation_p.G458R|FGFR2_uc010qth.1_Missense_Mutation_p.G455R|FGFR2_uc010qti.1_Missense_Mutation_p.G481R|FGFR2_uc010qtj.1_Missense_Mutation_p.G571R|FGFR2_uc010qtl.1_Missense_Mutation_p.G454R|FGFR2_uc010qtm.1_Missense_Mutation_p.G453R|FGFR2_uc001lfl.3_Missense_Mutation_p.G571R|FGFR2_uc001lfm.2_Missense_Mutation_p.G482R|FGFR2_uc001lfg.3_Missense_Mutation_p.G178R	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	570	Cytoplasmic (Potential).|Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CGGAGGTTGCCTTTAGAGGCA	0.522		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome			
NPS	594857	broad.mit.edu	37	10	129347763	129347763	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:129347763C>T	uc001ljx.1	+	2	39	c.19C>T	c.(19-21)CTC>TTC	p.L7F		NM_001030013	NP_001025184	P0C0P6	NPS_HUMAN	neuropeptide S precursor	7					neuropeptide signaling pathway	extracellular region					0						CTCAGTAAAACTCAATCTCAT	0.358												
JAKMIP3	282973	broad.mit.edu	37	10	133963530	133963530	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:133963530C>T	uc001lkx.3	+	15	1992	c.1992C>T	c.(1990-1992)GGC>GGT	p.G664G	JAKMIP3_uc009yba.1_Silent_p.G101G	NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACATCCTGGGCGATAACGCCG	0.587												
CDHR5	53841	broad.mit.edu	37	11	618634	618634	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:618634T>C	uc001lqj.2	-	13	2030	c.1925A>G	c.(1924-1926)CAG>CGG	p.Q642R	IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Missense_Mutation_p.Q476R|CDHR5_uc009ycd.2_Missense_Mutation_p.Q636R|CDHR5_uc001lql.2_Missense_Mutation_p.Q642R	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	642	4 X 31 AA approximate tandem repeats.|Extracellular (Potential).|4; truncated.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GGGCATCGGCTGAGAGGTTCC	0.622												
CTSD	1509	broad.mit.edu	37	11	1774897	1774897	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:1774897A>G	uc001luc.1	-	9	1208	c.1075T>C	c.(1075-1077)TCG>CCG	p.S359P	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	359					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGGCCTGCGACACCTGGGAC	0.711												
OR51B6	390058	broad.mit.edu	37	11	5373205	5373205	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:5373205A>G	uc010qzb.1	+	1	468	c.468A>G	c.(466-468)CCA>CCG	p.P156P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATTATGCCAATAGTTGTTC	0.493												
OR51I2	390064	broad.mit.edu	37	11	5475541	5475541	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:5475541C>A	uc010qzf.1	+	1	823	c.823C>A	c.(823-825)CTC>ATC	p.L275I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	275	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATACATGTCCTCATGTCAAA	0.473												
OR52B6	340980	broad.mit.edu	37	11	5602431	5602431	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:5602431T>A	uc010qzi.1	+	1	325	c.325T>A	c.(325-327)TAT>AAT	p.Y109N	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	109	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGCTAGGTTATAGCCTCAT	0.498												
OR52E4	390081	broad.mit.edu	37	11	5906226	5906226	+	Missense_Mutation	SNP	G	G	A	rs141226100		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:5906226G>A	uc010qzs.1	+	1	704	c.704G>A	c.(703-705)CGA>CAA	p.R235Q	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	235	Cytoplasmic (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)		CAAGATGTCCGACTAAAGGCC	0.398												
CCKBR	887	broad.mit.edu	37	11	6292358	6292358	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:6292358C>T	uc001mcp.2	+	5	1122	c.929C>T	c.(928-930)ACG>ATG	p.T310M	CCKBR_uc001mcq.2_Missense_Mutation_p.T238M|CCKBR_uc001mcr.2_Missense_Mutation_p.T310M|CCKBR_uc001mcs.2_Missense_Mutation_p.T379M|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	310	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ACGGCGCTGACGGCTCCTGGG	0.652												
DNHD1	144132	broad.mit.edu	37	11	6520167	6520167	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:6520167A>T	uc001mdw.3	+	3	1286	c.722A>T	c.(721-723)GAG>GTG	p.E241V	DNHD1_uc001mdp.2_Missense_Mutation_p.E241V	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	241					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCAGAGGTGGAGCCTGTTGGA	0.527												
AMPD3	272	broad.mit.edu	37	11	10483162	10483162	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:10483162G>T	uc001mio.1	+	2	431	c.96G>T	c.(94-96)GAG>GAT	p.E32D	AMPD3_uc010rbz.1_Translation_Start_Site|AMPD3_uc001min.1_Missense_Mutation_p.E41D|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.E32D|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.E39D|AMPD3_uc009yfy.2_Missense_Mutation_p.E32D	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	32					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TCCGAGAAGAGGACAGCAAAG	0.577												
MRVI1	10335	broad.mit.edu	37	11	10673666	10673666	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:10673666C>T	uc010rcc.1	-	2	517	c.131G>A	c.(130-132)CGT>CAT	p.R44H	MRVI1_uc001miw.2_Missense_Mutation_p.R35H|MRVI1_uc010rcb.1_Missense_Mutation_p.R35H|MRVI1_uc009ygb.1_Translation_Start_Site|MRVI1_uc001mix.2_Translation_Start_Site|MRVI1_uc001miz.2_Intron|MRVI1_uc009ygc.1_Intron|MRVI1_uc010rcd.1_Missense_Mutation_p.R44H|MRVI1_uc009ygd.1_Intron	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	35					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		p.M44I(1)		ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGAGTGGCCACGTGTGCCCGG	0.647												
SPON1	10418	broad.mit.edu	37	11	14156984	14156984	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:14156984C>T	uc001mle.2	+	7	1233	c.695C>T	c.(694-696)TCT>TTT	p.S232F		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	232	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		AACCACTGGTCTGCGATCATC	0.522												
SPON1	10418	broad.mit.edu	37	11	14156987	14156987	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:14156987C>T	uc001mle.2	+	7	1236	c.698C>T	c.(697-699)GCG>GTG	p.A233V		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	233	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		CACTGGTCTGCGATCATCGGA	0.532												
PDE3B	5140	broad.mit.edu	37	11	14852374	14852374	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:14852374G>T	uc001mln.2	+	8	2291	c.1938G>T	c.(1936-1938)CAG>CAT	p.Q646H	PDE3B_uc010rcr.1_Missense_Mutation_p.Q595H	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	646					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						AAGAGGCACAGAGTGAACAGC	0.338												
ABCC8	6833	broad.mit.edu	37	11	17428671	17428671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:17428671C>T	uc001mnc.2	-	25	3052	c.2926G>A	c.(2926-2928)GCA>ACA	p.A976T		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	976	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTCTCAGCTGCCTCCTCTGCA	0.443												
E2F8	79733	broad.mit.edu	37	11	19253779	19253779	+	Splice_Site	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:19253779A>G	uc001mpm.2	-	7	1588	c.1066_splice	c.e7+1	p.G356_splice	E2F8_uc009yhv.2_Intron|E2F8_uc001mpn.3_Splice_Site_p.G356_splice	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8						cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						AAAAATACATACCACTGGTAT	0.303												
KCNA4	3739	broad.mit.edu	37	11	30033234	30033234	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:30033234T>G	uc001msk.2	-	2	2144	c.992A>C	c.(991-993)GAG>GCG	p.E331A		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	331						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GTCCCTAAACTCAGGCAAGGT	0.527												
FSHB	2488	broad.mit.edu	37	11	30255240	30255240	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:30255240C>A	uc001msl.2	+	3	352	c.283C>A	c.(283-285)CCA>ACA	p.P95T	FSHB_uc001msm.2_Missense_Mutation_p.P95T|FSHB_uc001msn.2_Missense_Mutation_p.P95T	NM_000510	NP_000501	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	95					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			ovary(3)	3					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GTATACATACCCAGTGGCCAC	0.522												
TP53I11	9537	broad.mit.edu	37	11	44956568	44956568	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:44956568A>G	uc001myi.2	-	10	1042	c.437T>C	c.(436-438)GTG>GCG	p.V146A	TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Missense_Mutation_p.V146A|TP53I11_uc001myk.2_Missense_Mutation_p.V146A|TP53I11_uc001myl.2_Missense_Mutation_p.V146A|TP53I11_uc001mym.2_Missense_Mutation_p.V93A	NM_006034	NP_006025	O14683	P5I11_HUMAN	p53-induced protein	146	Helical; (Potential).				negative regulation of cell proliferation|response to stress	integral to membrane				ovary(1)	1						GGCAGTGACCACTGTGGGAGA	0.622												
GYLTL1B	120071	broad.mit.edu	37	11	45949811	45949811	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:45949811C>T	uc001nbv.1	+	13	1949	c.1838C>T	c.(1837-1839)GCG>GTG	p.A613V	GYLTL1B_uc001nbw.1_Missense_Mutation_p.A582V|GYLTL1B_uc001nbx.1_Missense_Mutation_p.A613V|GYLTL1B_uc001nby.1_Missense_Mutation_p.A296V|GYLTL1B_uc001nbz.1_Intron	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	613	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		GTGCAATGGGCGGCCAACTAT	0.642												
AMBRA1	55626	broad.mit.edu	37	11	46465080	46465080	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:46465080A>G	uc010rgu.1	-	12	2950	c.2590T>C	c.(2590-2592)TGG>CGG	p.W864R	AMBRA1_uc010rgt.1_Missense_Mutation_p.W430R|AMBRA1_uc009ylc.1_Missense_Mutation_p.W835R|AMBRA1_uc001ncu.1_Missense_Mutation_p.W774R|AMBRA1_uc001ncv.2_Missense_Mutation_p.W867R|AMBRA1_uc001ncw.2_Missense_Mutation_p.W745R|AMBRA1_uc001ncx.2_Missense_Mutation_p.W804R	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	864					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)		AAGTCCCACCACTGGAGCCGG	0.473												
ARHGAP1	392	broad.mit.edu	37	11	46700719	46700719	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:46700719G>A	uc001ndd.2	-	13	1257	c.1188C>T	c.(1186-1188)TTC>TTT	p.F396F		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	396	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGTTAGGGCCGAAAACAACAG	0.537												
CKAP5	9793	broad.mit.edu	37	11	46829626	46829626	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:46829626T>C	uc001ndi.1	-	8	1043	c.933A>G	c.(931-933)AAA>AAG	p.K311K	CKAP5_uc009ylg.1_Silent_p.K197K|CKAP5_uc001ndj.1_Silent_p.K311K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	311					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						CAGCTTCCAGTTTGGGGTTTT	0.388												
SLC39A13	91252	broad.mit.edu	37	11	47431758	47431758	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:47431758G>A	uc009ylq.2	+	2	284	c.113G>A	c.(112-114)CGG>CAG	p.R38Q	SLC39A13_uc001nfd.2_Missense_Mutation_p.R38Q|SLC39A13_uc001nfe.1_RNA|SLC39A13_uc001nff.3_Missense_Mutation_p.R38Q|SLC39A13_uc001nfg.3_Missense_Mutation_p.R38Q	NM_001128225	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter),	38	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity				0				Lung(87;0.0936)		CCGGCCCTCCGGAGCCGGGGG	0.692												
C1QTNF4	114900	broad.mit.edu	37	11	47611775	47611775	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:47611775C>T	uc001ngc.2	-	2	855	c.588G>A	c.(586-588)CCG>CCA	p.P196P		NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	196	C1q 2.					extracellular region					0						GTTGGTGCCGCGGCCCGGGGC	0.612												
OR4S1	256148	broad.mit.edu	37	11	48328082	48328082	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:48328082A>G	uc010rhu.1	+	1	308	c.308A>G	c.(307-309)CAC>CGC	p.H103R		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTTTCTGCCCACTTCTTTGGT	0.498												
OR8I2	120586	broad.mit.edu	37	11	55861106	55861106	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:55861106T>C	uc010rix.1	+	1	323	c.323T>C	c.(322-324)GTG>GCG	p.V108A		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					GTTGGATTGGTGTGTTGTGAG	0.418												
SLC43A3	29015	broad.mit.edu	37	11	57185246	57185246	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:57185246G>T	uc001nkg.2	-	8	1056	c.646C>A	c.(646-648)CCA>ACA	p.P216T	PRG2_uc001nke.2_Missense_Mutation_p.P115T|SLC43A3_uc001nkh.2_Missense_Mutation_p.P216T|SLC43A3_uc010rjr.1_Missense_Mutation_p.P229T|SLC43A3_uc009yme.2_Missense_Mutation_p.P216T|SLC43A3_uc001nki.2_Missense_Mutation_p.P216T|SLC43A3_uc009ymf.1_Missense_Mutation_p.P216T|SLC43A3_uc010rjs.1_Missense_Mutation_p.P216T|SLC43A3_uc009ymg.1_Missense_Mutation_p.P229T	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	216					transmembrane transport	integral to membrane				central_nervous_system(1)	1						GGGGGCAGTGGGTATGGGATG	0.577												
CTNND1	1500	broad.mit.edu	37	11	57575890	57575890	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:57575890G>A	uc001nmc.3	+	14	2691	c.2120G>A	c.(2119-2121)CGT>CAT	p.R707H	CTNND1_uc001nlh.1_Missense_Mutation_p.R707H|CTNND1_uc001nlu.3_Missense_Mutation_p.R600H|CTNND1_uc001nlt.3_Missense_Mutation_p.R600H|CTNND1_uc001nls.3_Missense_Mutation_p.R600H|CTNND1_uc001nlw.3_Missense_Mutation_p.R600H|CTNND1_uc001nmf.3_Missense_Mutation_p.R707H|CTNND1_uc001nmd.3_Missense_Mutation_p.R653H|CTNND1_uc001nlk.3_Missense_Mutation_p.R653H|CTNND1_uc001nme.3_Missense_Mutation_p.R701H|CTNND1_uc001nll.3_Missense_Mutation_p.R647H|CTNND1_uc001nmg.3_Missense_Mutation_p.R647H|CTNND1_uc001nlj.3_Missense_Mutation_p.R647H|CTNND1_uc001nlr.3_Missense_Mutation_p.R647H|CTNND1_uc001nlp.3_Missense_Mutation_p.R647H|CTNND1_uc001nlx.3_Missense_Mutation_p.R384H|CTNND1_uc001nlz.3_Missense_Mutation_p.R384H|CTNND1_uc009ymn.2_Missense_Mutation_p.R378H|CTNND1_uc001nlm.3_Missense_Mutation_p.R701H|CTNND1_uc001nly.3_Missense_Mutation_p.R378H|CTNND1_uc001nmb.3_Missense_Mutation_p.R378H|CTNND1_uc001nma.3_Missense_Mutation_p.R378H|CTNND1_uc001nmi.3_Missense_Mutation_p.R606H|CTNND1_uc001nmh.3_Missense_Mutation_p.R701H|CTNND1_uc001nlq.3_Missense_Mutation_p.R606H|CTNND1_uc001nln.3_Missense_Mutation_p.R701H|CTNND1_uc001nli.3_Missense_Mutation_p.R701H|CTNND1_uc001nlo.3_Missense_Mutation_p.R600H|CTNND1_uc001nlv.3_Missense_Mutation_p.R600H	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	707	ARM 8.				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)				TCTGCTCTGCGTCAAGAGAAG	0.458												
TCN1	6947	broad.mit.edu	37	11	59622135	59622135	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:59622135T>C	uc001noj.2	-	7	1209	c.1111A>G	c.(1111-1113)ACT>GCT	p.T371A		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	371					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAAATATAGTATCATTCATT	0.358												
TMEM109	79073	broad.mit.edu	37	11	60689416	60689416	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:60689416G>A	uc001nqg.2	+	4	889	c.511G>A	c.(511-513)GGC>AGC	p.G171S	TMEM109_uc001nqh.2_Missense_Mutation_p.G171S|TMEM132A_uc001nqi.2_5'Flank|TMEM132A_uc001nqj.2_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	171	Helical; (Potential).					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0						CTTCCTGGCCGGCTTCGTGGC	0.657												
INCENP	3619	broad.mit.edu	37	11	61912511	61912511	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:61912511C>T	uc001nsw.1	+	12	1865	c.1663C>T	c.(1663-1665)CGC>TGC	p.R555C	INCENP_uc009ynw.1_Missense_Mutation_p.R555C|INCENP_uc001nsx.1_Missense_Mutation_p.R551C|INCENP_uc001nsy.1_5'UTR	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	555	Potential.				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						CGAGCAGCTGCGCAGGCAGAA	0.672												
ATL3	25923	broad.mit.edu	37	11	63398579	63398579	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:63398579C>A	uc001nxk.1	-	12	1748	c.1472G>T	c.(1471-1473)AGG>ATG	p.R491M	ATL3_uc010rms.1_Missense_Mutation_p.R473M|ATL3_uc010rmr.1_Missense_Mutation_p.R149M	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	atlastin 3	491	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			pancreas(1)	1						ACCAGAATACCTGATGTAGCC	0.502												
ATL3	25923	broad.mit.edu	37	11	63398938	63398938	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:63398938A>C	uc001nxk.1	-	12	1389	c.1113T>G	c.(1111-1113)TGT>TGG	p.C371W	ATL3_uc010rms.1_Missense_Mutation_p.C353W|ATL3_uc010rmr.1_Missense_Mutation_p.C29W	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	atlastin 3	371	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			pancreas(1)	1						TCTCTCCCCCACAAACCTAAA	0.338												
PLCB3	5331	broad.mit.edu	37	11	64028918	64028918	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:64028918T>G	uc001nzb.2	+	15	1778	c.1778T>G	c.(1777-1779)CTT>CGT	p.L593R	PLCB3_uc009ypg.1_Missense_Mutation_p.L593R|PLCB3_uc009yph.1_Missense_Mutation_p.L526R|PLCB3_uc009ypi.2_Missense_Mutation_p.L593R	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	593	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						ATGTCCACGCTTGTCAACTAC	0.612												
LTBP3	4054	broad.mit.edu	37	11	65315479	65315479	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:65315479G>A	uc001oej.2	-	12	2027	c.1758C>T	c.(1756-1758)GGC>GGT	p.G586G	LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Silent_p.G16G|LTBP3_uc010roi.1_Silent_p.G469G|LTBP3_uc001oei.2_Silent_p.G586G|LTBP3_uc010roj.1_Silent_p.G287G|LTBP3_uc010rok.1_Silent_p.G497G	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	586	Cys-rich.|EGF-like 3.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						ACTCTCCGTGGCCACAGATGT	0.657												
MUS81	80198	broad.mit.edu	37	11	65629422	65629422	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:65629422C>T	uc001ofv.3	+	4	709	c.356C>T	c.(355-357)CCT>CTT	p.P119L	CFL1_uc001oft.2_5'Flank|MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'Flank	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	MUS81 endonuclease homolog	119					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding				0				READ - Rectum adenocarcinoma(159;0.166)		TTTCAGGTTCCTGCCCAGCCC	0.458								Homologous_recombination				
RBM4	5936	broad.mit.edu	37	11	66411100	66411100	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:66411100C>T	uc009yrj.2	+	3	1080	c.592C>T	c.(592-594)CGT>TGT	p.R198C	RBM4_uc009yrk.2_Missense_Mutation_p.R173C|RBM4_uc001oiw.1_Missense_Mutation_p.R198C|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.R198C|RBM4_uc001oiz.1_Missense_Mutation_p.R198C	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	198	Interaction with TNPO3.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CGGAGCAGTGCGTACGCCTTA	0.552												
ADRBK1	156	broad.mit.edu	37	11	67048584	67048584	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:67048584C>T	uc009yrn.1	+	8	842	c.576C>T	c.(574-576)AGC>AGT	p.S192S	ADRBK1_uc009yrm.1_Silent_p.S192S	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	192	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	ATGACTTCAGCGTGCATCGCA	0.657												
SLCO2B1	11309	broad.mit.edu	37	11	74876908	74876908	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:74876908G>T	uc001owb.2	+	4	749	c.362G>T	c.(361-363)GGG>GTG	p.G121V	SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_Missense_Mutation_p.G5V|SLCO2B1_uc001owc.2_Missense_Mutation_p.G5V|SLCO2B1_uc001owd.2_Missense_Mutation_p.G99V	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	121	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	ATTGGCTATGGGGCTATCCTT	0.582												
USP35	57558	broad.mit.edu	37	11	77916960	77916960	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:77916960G>A	uc009yva.1	+	7	1516	c.1270G>A	c.(1270-1272)GAG>AAG	p.E424K	USP35_uc001oze.2_Missense_Mutation_p.E180K|USP35_uc001ozc.2_5'UTR|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Silent_p.A33A|USP35_uc001ozf.2_Missense_Mutation_p.E155K	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	424					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	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;1.04e-25)			GCAGAAGAGCGAGCTGGCGGG	0.572												
GAB2	9846	broad.mit.edu	37	11	77936163	77936163	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:77936163G>A	uc001ozh.2	-	5	1293	c.1293C>T	c.(1291-1293)GGC>GGT	p.G431G	GAB2_uc001ozg.2_Silent_p.G393G	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	431					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CCAGGAAAGAGCCAACTCCAT	0.522												
CCDC89	220388	broad.mit.edu	37	11	85396904	85396904	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:85396904G>A	uc001pau.1	-	1	417	c.270C>T	c.(268-270)CGC>CGT	p.R90R		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	90	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGATCTGGCAGCGCTCCAGGG	0.577												
NAALAD2	10003	broad.mit.edu	37	11	89883713	89883713	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:89883713G>T	uc001pdf.3	+	5	656	c.547G>T	c.(547-549)GGC>TGC	p.G183C	NAALAD2_uc009yvx.2_Missense_Mutation_p.G183C|NAALAD2_uc009yvy.2_Missense_Mutation_p.G183C|NAALAD2_uc001pdd.2_Missense_Mutation_p.G183C|NAALAD2_uc001pde.2_Missense_Mutation_p.G183C	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	183	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAGAGAGATGGGCATCAACTG	0.328												
FAT3	120114	broad.mit.edu	37	11	92087030	92087030	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:92087030G>T	uc001pdj.3	+	1	1769	c.1752G>T	c.(1750-1752)CAG>CAT	p.Q584H		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	584	Cadherin 6.|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)				TGGCTTGCCAGGGAGTTATTT	0.428										TCGA Ovarian(4;0.039)		
FOLR4	390243	broad.mit.edu	37	11	94038823	94038823	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:94038823C>T	uc010rud.1	+	1	21	c.21C>T	c.(19-21)CTC>CTT	p.L7L		NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN	folate receptor 4 (delta) homolog	7						extracellular region	folic acid binding|receptor activity			ovary(1)	1						GGTGGCCGCTCCTGCTAGAGC	0.582												
CNTN5	53942	broad.mit.edu	37	11	100211267	100211267	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:100211267G>A	uc001pga.2	+	22	3142	c.2803G>A	c.(2803-2805)GTC>ATC	p.V935I	CNTN5_uc001pgb.2_Missense_Mutation_p.V861I|CNTN5_uc010ruk.1_Missense_Mutation_p.V206I	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	935	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGAGTCTTTCGTCATCCTAAC	0.428												
ATM	472	broad.mit.edu	37	11	108216545	108216545	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:108216545C>T	uc001pkb.1	+	58	8879	c.8494C>T	c.(8494-8496)CGT>TGT	p.R2832C	ATM_uc009yxr.1_Missense_Mutation_p.R2832C|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.R1484C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2832	PI3K/PI4K.		R -> C (in AT and B-cell non-Hodgkin lymphoma).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R2832C(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACCAGTTTTCCGTTACTTCTG	0.343			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
EXPH5	23086	broad.mit.edu	37	11	108381075	108381075	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:108381075G>A	uc001pkk.2	-	6	5270	c.5159C>T	c.(5158-5160)ACA>ATA	p.T1720I	EXPH5_uc010rvy.1_Missense_Mutation_p.T1532I|EXPH5_uc010rvz.1_Missense_Mutation_p.T1564I|EXPH5_uc010rwa.1_Missense_Mutation_p.T1644I	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1720					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGAGCTGCTGTGACGTCTTT	0.448												
USP28	57646	broad.mit.edu	37	11	113704196	113704196	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:113704196C>T	uc001poh.2	-	7	738	c.705G>A	c.(703-705)CCG>CCA	p.P235P	USP28_uc010rwy.1_Silent_p.P110P|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Silent_p.P235P|USP28_uc010rwz.1_Silent_p.P235P	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	235					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GGGCTGCAGACGGGTCTACAA	0.398												
RBM7	10179	broad.mit.edu	37	11	114278312	114278312	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:114278312C>T	uc001pov.2	+	5	594	c.584C>T	c.(583-585)TCA>TTA	p.S195L	RBM7_uc001pow.2_Missense_Mutation_p.S196L|RBM7_uc001pox.2_Missense_Mutation_p.S75L	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	195					meiosis		nucleotide binding|protein binding|RNA binding			ovary(2)	2		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GGTACACCATCATCACAGCGT	0.443												
RNF214	257160	broad.mit.edu	37	11	117152774	117152774	+	Silent	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:117152774C>A	uc001pqt.2	+	11	1545	c.1500C>A	c.(1498-1500)TCC>TCA	p.S500S	RNF214_uc001pqu.2_Silent_p.S500S|RNF214_uc010rxf.1_Silent_p.S345S	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	500	Pro-rich.						zinc ion binding				0	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;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GCCAGCCTTCCTCACCCCTTC	0.622												
MLL	4297	broad.mit.edu	37	11	118344459	118344459	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:118344459G>A	uc001pta.2	+	3	2608	c.2585G>A	c.(2584-2586)CGA>CAA	p.R862Q	MLL_uc001ptb.2_Missense_Mutation_p.R862Q|MLL_uc001psz.1_Missense_Mutation_p.R895Q|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	862					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TCCAAAGATCGAGATGCTGAC	0.303			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
H2AFX	3014	broad.mit.edu	37	11	118965850	118965850	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:118965850C>T	uc001pvg.2	-	1	328	c.255G>A	c.(253-255)CAG>CAA	p.Q85Q	H2AFX_uc001pvh.1_RNA	NM_002105	NP_002096	P16104	H2AX_HUMAN	H2A histone family, member X	85					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding				0	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GGATGGCCAGCTGCAGGTGGC	0.667								Chromatin_Structure|Direct_reversal_of_damage			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NLRX1	79671	broad.mit.edu	37	11	119045262	119045262	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:119045262T>C	uc001pvu.2	+	6	1165	c.950T>C	c.(949-951)CTG>CCG	p.L317P	NLRX1_uc010rzc.1_Missense_Mutation_p.L139P|NLRX1_uc001pvv.2_Missense_Mutation_p.L317P|NLRX1_uc001pvw.2_Missense_Mutation_p.L317P|NLRX1_uc001pvx.2_Missense_Mutation_p.L317P	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	317	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)		GATACCAACCTGCAGAAGCTC	0.602												
TECTA	7007	broad.mit.edu	37	11	120996278	120996278	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:120996278C>T	uc010rzo.1	+	7	1471	c.1471C>T	c.(1471-1473)CGT>TGT	p.R491C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	491	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGAGAGCTGGCGTGTGTACCA	0.582												
VWA5A	4013	broad.mit.edu	37	11	123994983	123994983	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:123994983A>G	uc001pzu.2	+	11	1413	c.1204A>G	c.(1204-1206)AGT>GGT	p.S402G	VWA5A_uc001pzr.2_Missense_Mutation_p.S402G|VWA5A_uc001pzs.2_Missense_Mutation_p.S402G|VWA5A_uc010sae.1_Missense_Mutation_p.S418G|VWA5A_uc001pzt.2_Missense_Mutation_p.S402G	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	402	VWFA.									upper_aerodigestive_tract(1)|ovary(1)	2						AGACACGTTTAGTGTAATTAA	0.363												
OR8D1	283159	broad.mit.edu	37	11	124179741	124179741	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:124179741T>G	uc010sag.1	-	1	922	c.922A>C	c.(922-924)AAA>CAA	p.K308Q		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGGACTCATTTTCCTACTAAG	0.363												
ERC1	23085	broad.mit.edu	37	12	1372286	1372286	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:1372286G>A	uc001qjb.2	+	14	2815	c.2574G>A	c.(2572-2574)ATG>ATA	p.M858I	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.M830I|ERC1_uc001qja.2_Intron|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.M858I|ERC1_uc010sdv.1_Intron|ERC1_uc001qje.2_RNA	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	858	Potential.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGCGGGAAATGGTGCTAGCAC	0.443												
LAG3	3902	broad.mit.edu	37	12	6882045	6882045	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:6882045G>A	uc001qqt.3	+	1	376	c.27G>A	c.(25-27)TTG>TTA	p.L9L	LAG3_uc001qqs.2_Silent_p.L9L|LAG3_uc001qqu.2_5'UTR	NM_002286	NP_002277	P18627	LAG3_HUMAN	lymphocyte-activation protein 3 precursor	9						integral to membrane	antigen binding|MHC class II protein binding				0						TCCTGGGCTTGCTGTTTCTGC	0.622												
GPR162	27239	broad.mit.edu	37	12	6933449	6933449	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:6933449A>G	uc001qqw.1	+	2	920	c.385A>G	c.(385-387)AAC>GAC	p.N129D	GPR162_uc010sfn.1_Missense_Mutation_p.N129D|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	129	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCGCCTCAGCAACGCCAAGAA	0.622												
CD163L1	283316	broad.mit.edu	37	12	7526223	7526223	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:7526223C>T	uc001qsy.2	-	14	3449	c.3423G>A	c.(3421-3423)TTG>TTA	p.L1141L	CD163L1_uc010sge.1_Silent_p.L1151L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1141	SRCR 11.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						TGTAGAGCCTCAAGGCTGTGA	0.448												
LRP6	4040	broad.mit.edu	37	12	12278295	12278295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:12278295G>A	uc001rah.3	-	21	4526	c.4384C>T	c.(4384-4386)CGA>TGA	p.R1462*	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Nonsense_Mutation_p.R1417*	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	1462	Cytoplasmic (Potential).				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				ACATGGGCTCGGTCATAGGGG	0.448												
GRIN2B	2904	broad.mit.edu	37	12	13716547	13716547	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:13716547G>A	uc001rbt.2	-	13	3804	c.3625C>T	c.(3625-3627)CGG>TGG	p.R1209W		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1209	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1209R(1)		central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCCCGGACCGGTCCTCCCAC	0.642												
H2AFJ	55766	broad.mit.edu	37	12	14927697	14927697	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:14927697T>C	uc009zia.2	+	1	428	c.293T>C	c.(292-294)CTG>CCG	p.L98P	H2AFJ_uc001rch.3_RNA	NM_177925	NP_808760	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	98					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)	1						AACAAGCTGCTGGGCAAAGTG	0.602												
PLCZ1	89869	broad.mit.edu	37	12	18865917	18865917	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:18865917G>A	uc010sid.1	-	6	764	c.573C>T	c.(571-573)GCC>GCT	p.A191A	PLCZ1_uc001rdv.3_Silent_p.A87A|PLCZ1_uc001rdw.3_Intron|PLCZ1_uc001rdu.1_5'UTR|PLCZ1_uc009zil.1_RNA	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	191	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTTTCACAAGGGCACTAGCAA	0.348												
LST-3TM12	338821	broad.mit.edu	37	12	21207464	21207464	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:21207464A>T	uc010sin.1	+	10	1435	c.1435A>T	c.(1435-1437)AGA>TGA	p.R479*	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Nonsense_Mutation_p.R526*	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	479						membrane	transporter activity				0						TGAATGCCCAAGAGATGATGC	0.368												
SOX5	6660	broad.mit.edu	37	12	23728680	23728680	+	Silent	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:23728680A>C	uc001rfw.2	-	10	1359	c.1257T>G	c.(1255-1257)GCT>GCG	p.A419A	SOX5_uc001rfx.2_Silent_p.A406A|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Silent_p.A33A|SOX5_uc010siv.1_Silent_p.A406A|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.A371A	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	419					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						TTATTCTCAGAGCTGGCATAT	0.517												
YARS2	51067	broad.mit.edu	37	12	32908133	32908133	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:32908133C>T	uc001rli.2	-	1	742	c.676G>A	c.(676-678)GCC>ACC	p.A226T		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	226					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity				0	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AAGTCATAGGCCTGGAGCACC	0.567											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SYT10	341359	broad.mit.edu	37	12	33532785	33532785	+	Silent	SNP	G	G	A	rs150924840		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:33532785G>A	uc001rll.1	-	6	1779	c.1482C>T	c.(1480-1482)CAC>CAT	p.H494H	SYT10_uc009zju.1_Silent_p.H304H	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	494	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATGGGTGCCAGTGCGTTATTG	0.438												
LRRK2	120892	broad.mit.edu	37	12	40677742	40677742	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:40677742A>G	uc001rmg.3	+	19	2428	c.2307A>G	c.(2305-2307)CAA>CAG	p.Q769Q	LRRK2_uc001rmh.1_Silent_p.Q391Q	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	769					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)				CTCGTGAACAAGATGTACGAA	0.408												
LRRK2	120892	broad.mit.edu	37	12	40734203	40734203	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:40734203G>A	uc001rmg.3	+	41	6177	c.6056G>A	c.(6055-6057)GGC>GAC	p.G2019D	LRRK2_uc009zjw.2_Missense_Mutation_p.G857D|LRRK2_uc001rmi.2_Missense_Mutation_p.G852D	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2019	Protein kinase.				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)				GCTGACTACGGCATTGCTCAG	0.453												
HDAC7	51564	broad.mit.edu	37	12	48191938	48191938	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:48191938C>T	uc009zkv.1	-	3	512	c.297G>A	c.(295-297)GCG>GCA	p.A99A	HDAC7_uc010slo.1_Silent_p.A138A|HDAC7_uc001rqj.3_Silent_p.A138A|HDAC7_uc001rqk.3_Silent_p.A121A			Q8WUI4	HDAC7_HUMAN	Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system.	99	Interaction with MEF2A (By similarity).|Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		TTTCTAGGGCCGCCTGCTGTT	0.617												
MLL2	8085	broad.mit.edu	37	12	49444339	49444339	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:49444339G>A	uc001rta.3	-	11	3032	c.3032C>T	c.(3031-3033)CCG>CTG	p.P1011L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1011	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						GGGAGAAGCCGGCCCCACTGG	0.612			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
KCNH3	23416	broad.mit.edu	37	12	49943878	49943878	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:49943878C>A	uc001ruh.1	+	10	1944	c.1684C>A	c.(1684-1686)CCT>ACT	p.P562T	KCNH3_uc010smj.1_Missense_Mutation_p.P502T	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	562	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						GCAGAGCCTCCCTGACGAGCT	0.692												
RACGAP1	29127	broad.mit.edu	37	12	50399110	50399110	+	Silent	SNP	G	G	A	rs149574224		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:50399110G>A	uc001rvt.2	-	6	664	c.354C>T	c.(352-354)AGC>AGT	p.S118S	RACGAP1_uc009zlm.1_Silent_p.S118S|RACGAP1_uc001rvs.2_Silent_p.S118S|RACGAP1_uc001rvu.2_Silent_p.S118S	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	118	Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						TTTGCTCCTCGCTTAGTTGAA	0.453												
ACVR1B	91	broad.mit.edu	37	12	52374774	52374774	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:52374774G>A	uc001rzn.2	+	4	644	c.602G>A	c.(601-603)CGC>CAC	p.R201H	ACVR1B_uc001rzl.2_Missense_Mutation_p.R201H|ACVR1B_uc001rzm.2_Missense_Mutation_p.R201H|ACVR1B_uc010snn.1_Missense_Mutation_p.R201H	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	201	Cytoplasmic (Potential).|GS.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TTTGTCCAGCGCACAGTGGCC	0.498											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KRT75	9119	broad.mit.edu	37	12	52826980	52826980	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:52826980C>T	uc001saj.2	-	2	577	c.555G>A	c.(553-555)CAG>CAA	p.Q185Q		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	185	Linker 1.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGCCCTGCTCCTGCAGGAGGG	0.567												
GPR84	53831	broad.mit.edu	37	12	54756512	54756512	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:54756512C>T	uc001sfu.2	-	2	1214	c.1124G>A	c.(1123-1125)CGC>CAC	p.R375H		NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	375	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)	2						GCGGAATTGGCGGTTCATGGC	0.542												
NCKAP1L	3071	broad.mit.edu	37	12	54936413	54936413	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:54936413T>C	uc001sgc.3	+	31	3407	c.3328T>C	c.(3328-3330)TAT>CAT	p.Y1110H	NCKAP1L_uc010sox.1_Missense_Mutation_p.Y652H|NCKAP1L_uc010soy.1_Missense_Mutation_p.Y1060H	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1110					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						CTGTTTCCCTTATGTCCTGCT	0.532												
OR6C3	254786	broad.mit.edu	37	12	55725984	55725984	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:55725984C>T	uc010spj.1	+	1	500	c.500C>T	c.(499-501)GCT>GTT	p.A167V		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GATTACTGTGCTTCCAACGTC	0.438												
OR6C76	390326	broad.mit.edu	37	12	55820443	55820443	+	Silent	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:55820443A>C	uc010spm.1	+	1	406	c.406A>C	c.(406-408)AGG>CGG	p.R136R		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CATGAGTGACAGGATCTGTTA	0.453												
MYL6B	140465	broad.mit.edu	37	12	56549214	56549214	+	Missense_Mutation	SNP	C	C	T	rs149424698		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:56549214C>T	uc001sjs.2	+	5	485	c.358C>T	c.(358-360)CGG>TGG	p.R120W	MYL6B_uc009zoo.2_Missense_Mutation_p.R120W|MYL6B_uc001sjt.2_Missense_Mutation_p.R120W|MYL6B_uc001sju.1_Missense_Mutation_p.R120W|MYL6_uc001sjv.2_5'Flank|MYL6_uc001sjw.1_5'Flank|MYL6_uc001sjx.1_5'Flank|MYL6_uc010sqd.1_5'Flank|MYL6_uc001sjz.2_5'Flank	NM_002475	NP_002466	P14649	MYL6B_HUMAN	smooth muscle and non-muscle myosin alkali light	120					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle				0			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GCTGAAGTCGCGGCGTGTGGA	0.522												
COQ10A	93058	broad.mit.edu	37	12	56662937	56662937	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:56662937C>T	uc001sko.3	+	3	637	c.376C>T	c.(376-378)CGT>TGT	p.R126C	COQ10A_uc001skp.3_Missense_Mutation_p.R94C|COQ10A_uc001skq.3_Missense_Mutation_p.R109C	NM_144576	NP_653177	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A isoform a	126						mitochondrial inner membrane				ovary(1)	1						GGTATCCAGCCGTAAGGGTCA	0.507												
AVIL	10677	broad.mit.edu	37	12	58204205	58204205	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:58204205G>A	uc001sqj.1	-	6	717	c.688C>T	c.(688-690)CGC>TGC	p.R230C	AVIL_uc009zqe.1_Missense_Mutation_p.R223C|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.3_Missense_Mutation_p.R207C	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	230	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ATAATGGAGCGTCGGCCAAGG	0.517												
SRGAP1	57522	broad.mit.edu	37	12	64488720	64488720	+	Silent	SNP	A	A	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:64488720A>T	uc010ssp.1	+	13	1604	c.1548A>T	c.(1546-1548)GGA>GGT	p.G516G	SRGAP1_uc001srv.2_Silent_p.G453G	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	516	Rho-GAP.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGGACTCAGGACAGGTTATTC	0.368												
GLIPR1L2	144321	broad.mit.edu	37	12	75784952	75784952	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:75784952C>A	uc001sxr.1	+	1	64	c.56C>A	c.(55-57)GCA>GAA	p.A19E	CAPS2_uc001sxm.3_5'Flank|CAPS2_uc009zsa.2_5'Flank|GLIPR1L2_uc001sxp.1_Missense_Mutation_p.A19E|GLIPR1L2_uc001sxq.1_5'UTR	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	19						integral to membrane				ovary(1)	1						CTACCCCTGGCAGTAGGGGGC	0.647											OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LIN7A	8825	broad.mit.edu	37	12	81331469	81331469	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:81331469C>T	uc001szj.1	-	1	226	c.33G>A	c.(31-33)ACG>ACA	p.T11T	LIN7A_uc001szk.1_RNA|MIR618_hsa-mir-618|MI0003632_5'Flank	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	11					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						CCATGTCTGCCGTGGGAGCCG	0.498												
LRRIQ1	84125	broad.mit.edu	37	12	85626524	85626524	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:85626524T>C	uc001tac.2	+	26	5117	c.5006T>C	c.(5005-5007)GTT>GCT	p.V1669A		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1669										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		GGTGGAAGAGTTCAGCTTGTG	0.313												
DUSP6	1848	broad.mit.edu	37	12	89743155	89743155	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:89743155A>C	uc001tay.2	-	3	1502	c.1022T>G	c.(1021-1023)CTG>CGG	p.L341R	DUSP6_uc001taz.2_Missense_Mutation_p.L195R	NM_001946	NP_001937	Q16828	DUS6_HUMAN	dual specificity phosphatase 6 isoform a	341	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						CTCGAAGTCCAGCAGCTGACC	0.478												
ATP2B1	490	broad.mit.edu	37	12	90010761	90010761	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:90010761G>A	uc001tbh.2	-	11	2066	c.1885C>T	c.(1885-1887)CGT>TGT	p.R629C	ATP2B1_uc001tbg.2_Missense_Mutation_p.R629C|ATP2B1_uc001tbf.2_Missense_Mutation_p.R299C	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	629	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						ATATCATCACGGTCCCTTGGT	0.373												
VEZT	55591	broad.mit.edu	37	12	95656840	95656840	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:95656840G>A	uc001tdz.2	+	4	522	c.417G>A	c.(415-417)CTG>CTA	p.L139L	VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Silent_p.L91L|VEZT_uc001tdt.2_Silent_p.L91L|VEZT_uc009zsz.1_Silent_p.L139L|VEZT_uc001tdv.2_Silent_p.L108L|VEZT_uc001tdw.1_Silent_p.L91L|VEZT_uc009zta.1_Silent_p.L91L	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	139	Helical; (Potential).					acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1						TTTGCTCCCTGGCAACCCCTA	0.448												
APAF1	317	broad.mit.edu	37	12	99061338	99061338	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:99061338G>A	uc001tfz.2	+	10	1987	c.1410G>A	c.(1408-1410)CCG>CCA	p.P470P	APAF1_uc001tfy.2_Silent_p.P459P|APAF1_uc001tga.2_Silent_p.P459P|APAF1_uc001tgb.2_Silent_p.P470P|APAF1_uc001tgc.2_Intron	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	470					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	ATCACCAGCCGCATACTCTTT	0.413												
GNPTAB	79158	broad.mit.edu	37	12	102164266	102164266	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:102164266C>T	uc001tit.2	-	9	1210	c.1031G>A	c.(1030-1032)CGG>CAG	p.R344Q	GNPTAB_uc001tiu.1_Missense_Mutation_p.R344Q	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	344					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						GAAAATATTCCGAACCCATGG	0.453												
C12orf42	374470	broad.mit.edu	37	12	103699764	103699764	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:103699764T>C	uc001tjt.2	-	5	707	c.619A>G	c.(619-621)AAG>GAG	p.K207E	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.K207E|C12orf42_uc001tju.2_Missense_Mutation_p.K112E	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	207										ovary(1)|central_nervous_system(1)	2						GAATTTTTCTTGGGACTGCTC	0.418												
STAB2	55576	broad.mit.edu	37	12	104140466	104140466	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:104140466C>T	uc001tjw.2	+	58	6414	c.6228C>T	c.(6226-6228)GAC>GAT	p.D2076D	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2076	Extracellular (Potential).|EGF-like 15.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						ATGAAGGTGACGGAATCACAT	0.348												
STAB2	55576	broad.mit.edu	37	12	104155080	104155080	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:104155080G>A	uc001tjw.2	+	66	7437	c.7251G>A	c.(7249-7251)ACG>ACA	p.T2417T	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2417	Extracellular (Potential).|FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.T2417M(1)		ovary(9)|skin(5)	14						TTCCCTAGACGGAGACCAGGT	0.512												
APPL2	55198	broad.mit.edu	37	12	105601755	105601755	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:105601755A>G	uc001tlf.1	-	7	686	c.468T>C	c.(466-468)AAT>AAC	p.N156N	APPL2_uc010swt.1_Silent_p.N113N|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Silent_p.N162N|APPL2_uc009zuq.2_Silent_p.N113N	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	156	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						TTACCTTCTCATTCTCCTTTT	0.413												
ACACB	32	broad.mit.edu	37	12	109644517	109644517	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:109644517T>C	uc001tob.2	+	20	3035	c.2916T>C	c.(2914-2916)GCT>GCC	p.A972A	ACACB_uc001toc.2_Silent_p.A972A	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	972					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CTCATCAGGCTGAACCGTTCA	0.572												
ACACB	32	broad.mit.edu	37	12	109677741	109677741	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:109677741A>C	uc001tob.2	+	35	4888	c.4769A>C	c.(4768-4770)AAC>ACC	p.N1590T	ACACB_uc001toc.2_Missense_Mutation_p.N1590T|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.N256T	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1590					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	ACCGACTGCAACCACATCTTC	0.602												
ATXN2	6311	broad.mit.edu	37	12	111923108	111923108	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:111923108T>C	uc001tsj.2	-	18	3127	c.2965A>G	c.(2965-2967)ATG>GTG	p.M989V	ATXN2_uc001tsh.2_Missense_Mutation_p.M724V|ATXN2_uc001tsi.2_Missense_Mutation_p.M700V|ATXN2_uc001tsk.2_Intron|ATXN2_uc001tsg.2_Missense_Mutation_p.M175V	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	989	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						TTCACTGGCATGGGCGTCATA	0.368												
OAS1	4938	broad.mit.edu	37	12	113348918	113348918	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:113348918A>G	uc001tud.2	+	3	638	c.532A>G	c.(532-534)ACC>GCC	p.T178A	OAS1_uc010syn.1_Missense_Mutation_p.T177A|OAS1_uc010syo.1_Missense_Mutation_p.H161R|OAS1_uc001tub.2_Missense_Mutation_p.T178A|OAS1_uc001tuc.2_Missense_Mutation_p.T178A|OAS1_uc009zwf.2_Missense_Mutation_p.T177A	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	178					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2						CGAGGAGTGCACCGACCTGCA	0.527												
RASAL1	8437	broad.mit.edu	37	12	113543607	113543607	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:113543607G>A	uc001tum.1	-	17	2032	c.1739C>T	c.(1738-1740)GCC>GTC	p.A580V	RASAL1_uc010syp.1_Missense_Mutation_p.A581V|RASAL1_uc001tul.2_Missense_Mutation_p.A580V|RASAL1_uc001tun.1_Missense_Mutation_p.A582V|RASAL1_uc010syq.1_Missense_Mutation_p.A581V|RASAL1_uc001tuo.3_Missense_Mutation_p.A581V	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	580	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						GGCCAGGCCGGCAGGCTCCTC	0.627												
KSR2	283455	broad.mit.edu	37	12	118105367	118105367	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:118105367G>A	uc001two.2	-	5	1051	c.996C>T	c.(994-996)TCC>TCT	p.S332S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	361					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGAGCGCTCGGACAGCAGCG	0.582												
CIT	11113	broad.mit.edu	37	12	120142226	120142226	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:120142226G>T	uc001txi.1	-	40	5173	c.5120C>A	c.(5119-5121)CCC>CAC	p.P1707H	CIT_uc001txh.1_Missense_Mutation_p.P1226H|CIT_uc001txj.1_Missense_Mutation_p.P1749H	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1707	CNH.				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)		GACTTTGCTGGGCATGGCTGC	0.502												
KNTC1	9735	broad.mit.edu	37	12	123082320	123082320	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:123082320T>C	uc001ucv.2	+	44	4561	c.4398T>C	c.(4396-4398)ATT>ATC	p.I1466I	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1466					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGCTCTTCATTGAAACGCTGC	0.512												
HIP1R	9026	broad.mit.edu	37	12	123339495	123339495	+	Silent	SNP	C	C	T	rs137994880		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:123339495C>T	uc001udj.1	+	9	821	c.762C>T	c.(760-762)CAC>CAT	p.H254H	HIP1R_uc001udg.1_Silent_p.H242H|HIP1R_uc001udi.1_Silent_p.H254H|HIP1R_uc001udk.1_5'Flank	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	254					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		ACCGGTTCCACGAGCAGTTTC	0.622												
MPHOSPH9	10198	broad.mit.edu	37	12	123648515	123648515	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:123648515G>A	uc001uel.2	-	15	2541	c.2434C>T	c.(2434-2436)CGT>TGT	p.R812C	MPHOSPH9_uc010tal.1_Missense_Mutation_p.R266C|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.R266C	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	812					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTTGATTTACGATTTGAAGGT	0.398												
DNAH10	196385	broad.mit.edu	37	12	124297909	124297909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:124297909C>T	uc001uft.3	+	19	3014	c.2989C>T	c.(2989-2991)CGA>TGA	p.R997*	DNAH10_uc010tav.1_Nonsense_Mutation_p.R539*|DNAH10_uc010taw.1_Nonsense_Mutation_p.R482*	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	997	Stem (By similarity).				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)		GAAGCGGTATCGACCTCTCTG	0.393												
NCOR2	9612	broad.mit.edu	37	12	124862855	124862855	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:124862855C>T	uc010tba.1	-	18	2212	c.2095G>A	c.(2095-2097)GTG>ATG	p.V699M	NCOR2_uc010tay.1_Missense_Mutation_p.V699M|NCOR2_uc010taz.1_Missense_Mutation_p.V699M|NCOR2_uc010tbb.1_Missense_Mutation_p.V699M|NCOR2_uc010tbc.1_Missense_Mutation_p.V698M|NCOR2_uc001ugj.1_Missense_Mutation_p.V699M	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	699					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCTCCACCACGGGCGGGAAT	0.662												
TMEM132D	121256	broad.mit.edu	37	12	130184785	130184785	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:130184785G>A	uc009zyl.1	-	2	866	c.538C>T	c.(538-540)CGG>TGG	p.R180W		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	180	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAGCTGCCCCGCACCTCTCGG	0.687												
N6AMT2	221143	broad.mit.edu	37	13	21303256	21303256	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:21303256T>C	uc001uno.1	-	5	689	c.608A>G	c.(607-609)TAT>TGT	p.Y203C	uc001unn.1_5'Flank|N6AMT2_uc009zzr.1_Missense_Mutation_p.Y203C|N6AMT2_uc001unp.2_RNA	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2	203							methyltransferase activity|nucleic acid binding				0		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAATTCACATAACAGCGAAA	0.463												
C1QTNF9B	387911	broad.mit.edu	37	13	24465970	24465970	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:24465970T>C	uc010tcw.1	-	3	460	c.460A>G	c.(460-462)ATG>GTG	p.M154V	MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Missense_Mutation_p.M75T|PCOTH_uc009zzx.2_Missense_Mutation_p.M84T|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Missense_Mutation_p.M154V	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	154	Collagen-like 2.					collagen					0						ATAGGGCCCATGGGGCCCGGT	0.632												
MTMR6	9107	broad.mit.edu	37	13	25825905	25825905	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:25825905C>A	uc001uqf.3	-	13	1806	c.1487G>T	c.(1486-1488)AGG>ATG	p.R496M	MTMR6_uc001uqe.1_Missense_Mutation_p.R496M	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	496	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)		GTACATGTTCCTCCAAAACCT	0.274												
ATP8A2	51761	broad.mit.edu	37	13	26043196	26043196	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:26043196C>T	uc001uqk.2	+	2	300	c.158C>T	c.(157-159)GCA>GTA	p.A53V	ATP8A2_uc010tdi.1_Missense_Mutation_p.A13V|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.A13V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	13	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CAGCTGGAGGCACCCGCCCGC	0.602												
FRY	10129	broad.mit.edu	37	13	32761728	32761728	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:32761728G>T	uc001utx.2	+	28	4022	c.3526G>T	c.(3526-3528)GGC>TGC	p.G1176C	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGACAATGTGGGCCTTTCCCC	0.393												
KIAA0564	23078	broad.mit.edu	37	13	42179380	42179380	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:42179380G>A	uc001uyj.2	-	40	4980	c.4910C>T	c.(4909-4911)GCT>GTT	p.A1637V		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1637						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		ATAGGTTGCAGCATCGTATTC	0.408												
TSC22D1	8848	broad.mit.edu	37	13	45147869	45147869	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:45147869G>T	uc001uzn.3	-	1	2833	c.2342C>A	c.(2341-2343)GCT>GAT	p.A781D	TSC22D1_uc001uzo.1_Intron	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	781	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AAGGCTTGGAGCACTAGTTTG	0.478												
ZC3H13	23091	broad.mit.edu	37	13	46539429	46539429	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:46539429T>G	uc010tfw.1	-	15	4463	c.4457A>C	c.(4456-4458)GAG>GCG	p.E1486A	ZC3H13_uc001vaq.2_Missense_Mutation_p.E71A|ZC3H13_uc001vas.1_Missense_Mutation_p.E1487A	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1486							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CATCTTCTCCTCATCCTGTTG	0.393												
CDADC1	81602	broad.mit.edu	37	13	49865876	49865876	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:49865876C>T	uc001vcu.2	+	10	1604	c.1528C>T	c.(1528-1530)CGC>TGC	p.R510C	CDADC1_uc010tgk.1_Missense_Mutation_p.R312C|CDADC1_uc001vcv.2_RNA	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	510							hydrolase activity|zinc ion binding	p.R510H(1)		upper_aerodigestive_tract(1)	1		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		CAAGAAGCTGCGCCTCGGAAT	0.458												
PCDH8	5100	broad.mit.edu	37	13	53420276	53420276	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:53420276C>T	uc001vhi.2	-	1	2499	c.2296G>A	c.(2296-2298)GCC>ACC	p.A766T	PCDH8_uc001vhj.2_Missense_Mutation_p.A766T	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	766	Helical; (Potential).				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)		GCGATGATGGCGGCCAGCAGC	0.607												
TBC1D4	9882	broad.mit.edu	37	13	75898529	75898529	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:75898529G>A	uc001vjl.1	-	11	2389	c.2042C>T	c.(2041-2043)TCG>TTG	p.S681L	TBC1D4_uc010aer.2_Missense_Mutation_p.S681L|TBC1D4_uc010aes.2_Intron	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	681	Ser-rich.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCGAACTGACGAAAGATTGCT	0.393												
LMO7	4008	broad.mit.edu	37	13	76382165	76382165	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:76382165G>A	uc001vjv.2	+	7	1807	c.1047G>A	c.(1045-1047)CGG>CGA	p.R349R	LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Silent_p.R255R	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	634						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)		CTTCATATCGGCAGAAGAAAG	0.448												
MYCBP2	23077	broad.mit.edu	37	13	77732134	77732134	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:77732134T>C	uc001vkf.2	-	46	6685	c.6594A>G	c.(6592-6594)GAA>GAG	p.E2198E	MYCBP2_uc010aev.2_Silent_p.E1602E	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAAAAGACTGTTCATTGCTTT	0.393												
EDNRB	1910	broad.mit.edu	37	13	78492668	78492668	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:78492668G>A	uc001vko.2	-	1	299	c.41C>T	c.(40-42)GCG>GTG	p.A14V	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.A14V|EDNRB_uc010aez.1_Missense_Mutation_p.A14V|EDNRB_uc001vkp.1_Missense_Mutation_p.A97V|EDNRB_uc010afa.1_Missense_Mutation_p.A14V	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	14					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AAGAACCAGCGCAACCAGGGC	0.637											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLITRK5	26050	broad.mit.edu	37	13	88329399	88329399	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:88329399C>A	uc001vln.2	+	2	1975	c.1756C>A	c.(1756-1758)CTA>ATA	p.L586I	SLITRK5_uc010tic.1_Missense_Mutation_p.L345I	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	586	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AGTGGGCGTCCTAGTGGACGA	0.517												
STK24	8428	broad.mit.edu	37	13	99118674	99118674	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:99118674G>T	uc001vnm.1	-	6	1010	c.775C>A	c.(775-777)CTC>ATC	p.L259I	STK24_uc001vnn.1_Missense_Mutation_p.L247I|STK24_uc010tim.1_Missense_Mutation_p.L228I	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	259	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AACTCCTTGAGGGGTTTACTG	0.493												
OR11H4	390442	broad.mit.edu	37	14	20711372	20711372	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:20711372A>G	uc010tld.1	+	1	422	c.422A>G	c.(421-423)CAG>CGG	p.Q141R		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	141	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CACCCACTGCAGTACCCTGCC	0.453												
METT11D1	64745	broad.mit.edu	37	14	21460309	21460309	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:21460309C>T	uc001vyn.2	+	4	588	c.391C>T	c.(391-393)CGT>TGT	p.R131C	METT11D1_uc010tlk.1_Silent_p.F141F|METT11D1_uc001vym.2_Missense_Mutation_p.R131C|METT11D1_uc001vyo.2_Missense_Mutation_p.R131C|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	131					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGAGAAACTTCGTGGAGCAGT	0.483												
PCK2	5106	broad.mit.edu	37	14	24568857	24568857	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:24568857C>T	uc001wlt.2	+	6	1075	c.943C>T	c.(943-945)CGG>TGG	p.R315W	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.R327W|PCK2_uc001wls.2_Missense_Mutation_p.R315W|PCK2_uc010tnw.1_Missense_Mutation_p.R181W|PCK2_uc010ald.2_Missense_Mutation_p.R167W|PCK2_uc010ale.2_3'UTR|PCK2_uc010tnx.1_Missense_Mutation_p.R181W|PCK2_uc001wlu.3_Missense_Mutation_p.R181W	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	315					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		GGCTATGATGCGGCCTGCACT	0.562												
TM9SF1	10548	broad.mit.edu	37	14	24663934	24663934	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:24663934G>A	uc001wnb.1	-	2	640	c.292C>T	c.(292-294)CGG>TGG	p.R98W	TM9SF1_uc010toa.1_Missense_Mutation_p.R11W|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.R333W|TM9SF1_uc001wnc.2_Missense_Mutation_p.R98W|TM9SF1_uc001wnd.2_5'Flank	NM_006405	NP_006396	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1 isoform a	98					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0183)		ACGTTTTCCCGAAAGCGGATC	0.532												
GZMH	2999	broad.mit.edu	37	14	25078817	25078817	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:25078817C>A	uc001wpr.1	-	1	48	c.3G>T	c.(1-3)ATG>ATT	p.M1I	GZMH_uc010aly.1_Missense_Mutation_p.M1I|GZMH_uc010alz.1_Missense_Mutation_p.M1I	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor	1					apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)		GGAATGGCTGCATTTTCTCAG	0.512												
NPAS3	64067	broad.mit.edu	37	14	34029327	34029327	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:34029327T>C	uc001wru.2	+	5	533	c.469T>C	c.(469-471)TCC>CCC	p.S157P	NPAS3_uc001wrs.2_Missense_Mutation_p.S144P|NPAS3_uc001wrt.2_Missense_Mutation_p.S125P|NPAS3_uc001wrv.2_Missense_Mutation_p.S127P|NPAS3_uc001wrw.2_Missense_Mutation_p.S55P	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	157	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTCCTGCAGTCCCTGGATGG	0.313												
PSMC6	5706	broad.mit.edu	37	14	53194224	53194224	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:53194224C>T	uc010tqx.1	+	14	1101	c.1101C>T	c.(1099-1101)TTC>TTT	p.F367F	STYX_uc010tqy.1_5'Flank|STYX_uc001xaa.2_5'Flank|PSMC6_uc001wzy.2_RNA	NM_002806	NP_002797	P62333	PRS10_HUMAN	proteasome 26S ATPase subunit 6	353					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	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			lung(1)	1	Breast(41;0.176)					CAGGTATGTTCGCAATTCGTG	0.323												
WDHD1	11169	broad.mit.edu	37	14	55477052	55477052	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:55477052C>T	uc001xbm.1	-	4	394	c.316G>A	c.(316-318)GGT>AGT	p.G106S	WDHD1_uc001xbn.1_5'UTR	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	106	WD 3.					cytoplasm|nucleoplasm	DNA binding			skin(1)	1						ATTTTAGTACCATCCCCATTA	0.373												
ARG2	384	broad.mit.edu	37	14	68086712	68086712	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:68086712C>T	uc001xjs.2	+	1	134	c.18C>T	c.(16-18)AGC>AGT	p.S6S		NM_001172	NP_001163	P78540	ARGI2_HUMAN	arginase 2 precursor	6					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding				0				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TAAGGGGCAGCCTCTCGCGTC	0.627												
RDH11	51109	broad.mit.edu	37	14	68159192	68159192	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:68159192A>G	uc001xjv.3	-	3	402	c.312T>C	c.(310-312)ACT>ACC	p.T104T	RDH11_uc001xjw.3_Silent_p.T91T|RDH11_uc001xjx.3_Silent_p.T104T	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11	104	Cytoplasmic (Potential).				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GAATAGACTTAGTATCAGACA	0.448												
ADAM20	8748	broad.mit.edu	37	14	70990275	70990275	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:70990275A>G	uc001xme.2	-	2	1595	c.1350T>C	c.(1348-1350)TAT>TAC	p.Y450Y		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	400	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TATTCCCTGGATATGGAGGCG	0.423												
SIPA1L1	26037	broad.mit.edu	37	14	72171482	72171482	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:72171482G>A	uc001xms.2	+	13	4039	c.3691G>A	c.(3691-3693)GAG>AAG	p.E1231K	SIPA1L1_uc001xmt.2_Intron|SIPA1L1_uc001xmu.2_Intron|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E1231K|SIPA1L1_uc010ttm.1_Intron|SIPA1L1_uc001xmw.2_Intron	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1231					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTTGTCCTCGAGCAGCATGA	0.388												
FOXN3	1112	broad.mit.edu	37	14	89747303	89747303	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:89747303G>T	uc001xxo.3	-	4	873	c.736C>A	c.(736-738)CTT>ATT	p.L246I	FOXN3_uc001xxn.3_Missense_Mutation_p.L246I|FOXN3_uc010atk.2_Missense_Mutation_p.L246I	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	246					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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(2)|ovary(1)	3						CCTTGGAGAAGGGCTCCATTT	0.517												
C14orf102	55051	broad.mit.edu	37	14	90755357	90755357	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:90755357G>A	uc001xyi.1	-	11	2393	c.2362C>T	c.(2362-2364)CAT>TAT	p.H788Y	C14orf102_uc010atp.1_Missense_Mutation_p.H293Y|C14orf102_uc001xyj.1_Missense_Mutation_p.H557Y|C14orf102_uc001xyk.1_5'UTR	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	788	HAT 3.						protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CACTCCAGATGTGCATACTGC	0.463												
C14orf102	55051	broad.mit.edu	37	14	90767681	90767681	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:90767681C>T	uc001xyi.1	-	7	1478	c.1447G>A	c.(1447-1449)GCT>ACT	p.A483T	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.1_Missense_Mutation_p.A252T	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	483							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GAGTGGCCAGCCTGCCGCAGA	0.522												
CLMN	79789	broad.mit.edu	37	14	95786119	95786119	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:95786119T>C	uc001yef.2	-	1	127	c.11A>G	c.(10-12)CAC>CGC	p.H4R		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	4	Actin-binding.|CH 1.					integral to membrane	actin binding				0				Epithelial(152;0.193)		GTCCCACTCGTGTGCAGCCAT	0.448												
ATG2B	55102	broad.mit.edu	37	14	96800759	96800759	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:96800759G>A	uc001yfi.2	-	7	1369	c.1004C>T	c.(1003-1005)GCA>GTA	p.A335V		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	335										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGCAATAGCTGCCAACATATC	0.308												
WDR25	79446	broad.mit.edu	37	14	100934422	100934422	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:100934422G>T	uc010avx.2	+	3	980	c.887G>T	c.(886-888)CGG>CTG	p.R296L	WDR25_uc001yhm.2_Missense_Mutation_p.R288L|WDR25_uc001yhn.2_Missense_Mutation_p.R296L|WDR25_uc010avy.2_Intron|WDR25_uc001yho.2_Missense_Mutation_p.R39L	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	296	WD 2.										0		Melanoma(154;0.212)				GAGGCAGTGCGGGCCGCCCGG	0.617												
DYNC1H1	1778	broad.mit.edu	37	14	102505979	102505979	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:102505979C>T	uc001yks.2	+	62	11764	c.11600C>T	c.(11599-11601)GCG>GTG	p.A3867V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3867					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						TCCCAGGTGGCGTTTAACCGA	0.577												
RCOR1	23186	broad.mit.edu	37	14	103174857	103174857	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:103174857C>T	uc001ymb.2	+	6	707	c.707C>T	c.(706-708)ACG>ATG	p.T236M		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	236	Interaction with HDAC1.|SANT 1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			ovary(1)	1						TGGAAGAAGACGAGGACTAAA	0.403												
GPR132	29933	broad.mit.edu	37	14	105517586	105517586	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:105517586C>T	uc001yqd.2	-	4	1787	c.888G>A	c.(886-888)CTG>CTA	p.L296L	GPR132_uc001yqc.2_Silent_p.L108L|GPR132_uc001yqe.2_Silent_p.L287L	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	296	Helical; Name=7; (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCACCGTGGACAGGCACAGAA	0.562												
PACS2	23241	broad.mit.edu	37	14	105849215	105849215	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:105849215G>A	uc001yqt.2	+	15	1753	c.1578G>A	c.(1576-1578)GCG>GCA	p.A526A	PACS2_uc001yqs.2_Silent_p.A451A|PACS2_uc001yqv.2_Silent_p.A530A|PACS2_uc001yqu.2_Silent_p.A530A	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	526					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACGTCCAGGCGGCCTTCAGCA	0.632												
MKRN3	7681	broad.mit.edu	37	15	23811706	23811706	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:23811706G>A	uc001ywh.3	+	1	1253	c.777G>A	c.(775-777)ATG>ATA	p.M259I	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.M259I	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	259	C3H1-type 2.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGAGCTGTATGTACCTCCATG	0.542												
MKRN3	7681	broad.mit.edu	37	15	23812005	23812005	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:23812005A>C	uc001ywh.3	+	1	1552	c.1076A>C	c.(1075-1077)AAG>ACG	p.K359T	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.K359T	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	359	RING-type.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGATCGTCAAGTCTTGCCCA	0.493												
C15orf2	23742	broad.mit.edu	37	15	24921372	24921372	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:24921372A>G	uc001ywo.2	+	1	832	c.358A>G	c.(358-360)AGC>GGC	p.S120G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	120					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCCTCCTCCCAGCCGCATGTT	0.652												
C15orf2	23742	broad.mit.edu	37	15	24922571	24922571	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:24922571G>C	uc001ywo.2	+	1	2031	c.1557G>C	c.(1555-1557)ATG>ATC	p.M519I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	519	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CAATATCTATGTGTGTGGATT	0.557												
C15orf2	23742	broad.mit.edu	37	15	24922914	24922914	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:24922914A>T	uc001ywo.2	+	1	2374	c.1900A>T	c.(1900-1902)AGT>TGT	p.S634C		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	634					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TACCACCCCAAGTTTTAACCA	0.493												
TJP1	7082	broad.mit.edu	37	15	30010323	30010323	+	Splice_Site	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:30010323C>A	uc001zcr.2	-	22	4352	c.3877_splice	c.e22-1	p.P1293_splice	TJP1_uc010azl.2_Splice_Site_p.P1281_splice|TJP1_uc001zcq.2_Splice_Site_p.P1217_splice|TJP1_uc001zcs.2_Splice_Site_p.P1213_splice	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a						cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTTCTGGAGGCTGTTTaaaaa	0.388												
CHRNA7	1139	broad.mit.edu	37	15	32460281	32460281	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:32460281G>A	uc001zft.2	+	10	1203	c.1131G>A	c.(1129-1131)CCG>CCA	p.P377P	uc001zfv.1_Intron|CHRNA7_uc010baf.2_Silent_p.P196P|CHRNA7_uc010bak.2_Silent_p.P292P	NM_000746	NP_000737	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7	377	Cytoplasmic (Potential).				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			ovary(1)	1		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	TGGCGCCGCCGCCCGCCAGCA	0.706												
IVD	3712	broad.mit.edu	37	15	40707611	40707611	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:40707611C>T	uc001zls.3	+	9	1233	c.899C>T	c.(898-900)GCG>GTG	p.A300V	IVD_uc001zlq.2_Missense_Mutation_p.A270V|IVD_uc001zlr.2_Missense_Mutation_p.A3V	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	297					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)		CTCATGCAAGCGGTCCTGGAC	0.587												
VPS18	57617	broad.mit.edu	37	15	41192156	41192156	+	Silent	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:41192156C>A	uc001zne.2	+	4	1479	c.1140C>A	c.(1138-1140)GCC>GCA	p.A380A		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	380					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCTGTGGGCCTACACTGAGC	0.607												
DLL4	54567	broad.mit.edu	37	15	41228487	41228487	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:41228487C>T	uc001zng.1	+	9	1622	c.1302C>T	c.(1300-1302)GGC>GGT	p.G434G		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	434	EGF-like 6.|Extracellular (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(2)	2		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)		GATTCACGGGCACCTACTGTG	0.617												
RPAP1	26015	broad.mit.edu	37	15	41819655	41819655	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:41819655G>A	uc001zod.2	-	12	1701	c.1577C>T	c.(1576-1578)CCT>CTT	p.P526L		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	526						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTCAGGTGGAGGCCGGCTTTC	0.557												
SPTBN5	51332	broad.mit.edu	37	15	42147042	42147042	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:42147042G>C	uc001zos.2	-	56	9784	c.9451C>G	c.(9451-9453)CAG>GAG	p.Q3151E		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3186	Spectrin 28.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGGCTCCTCTGGGCTTGGATG	0.622												
TGM5	9333	broad.mit.edu	37	15	43531359	43531359	+	Splice_Site	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:43531359A>G	uc001zrd.1	-	8	1113	c.1105_splice	c.e8+1	p.G369_splice	TGM5_uc001zrc.1_Intron|TGM5_uc001zre.1_Splice_Site_p.G287_splice	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1						epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGAGAGCCTCACCGTTGCTCA	0.632												
MAP1A	4130	broad.mit.edu	37	15	43816676	43816676	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:43816676C>T	uc001zrt.2	+	4	3472	c.3005C>T	c.(3004-3006)CCA>CTA	p.P1002L		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1002						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)	CCATCTGGCCCACCCAGTGCC	0.582												
B2M	567	broad.mit.edu	37	15	45003747	45003747	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:45003747G>A	uc001zuc.2	+	1	63	c.3G>A	c.(1-3)ATG>ATA	p.M1I	B2M_uc010uek.1_Missense_Mutation_p.M1I|B2M_uc010bdx.1_Missense_Mutation_p.M1I	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	1					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.M1V(2)		ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GGGCCGAGATGTCTCGCTCCG	0.612												
SEMA6D	80031	broad.mit.edu	37	15	48063126	48063126	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:48063126A>G	uc010bek.2	+	19	2726	c.2366A>G	c.(2365-2367)AAG>AGG	p.K789R	SEMA6D_uc001zvw.2_Missense_Mutation_p.K727R|SEMA6D_uc001zvy.2_Missense_Mutation_p.K789R|SEMA6D_uc001zvz.2_Missense_Mutation_p.K733R|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.K727R|SEMA6D_uc001zwc.2_Missense_Mutation_p.K714R	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	789	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAGGCCATGAAGAGCCACTCA	0.537												
FBN1	2200	broad.mit.edu	37	15	48780642	48780642	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:48780642C>T	uc001zwx.1	-	26	3459	c.3131G>A	c.(3130-3132)TGC>TAC	p.C1044Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1044	EGF-like 15; calcium-binding.		C -> Y (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTGTTTCTGCACTTGCCGTG	0.458												
USP50	373509	broad.mit.edu	37	15	50836866	50836866	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:50836866T>C	uc001zyq.3	-	2	346	c.166A>G	c.(166-168)AAT>GAT	p.N56D		NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	ubiquitin specific protease 50	56					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			lung(1)|breast(1)	2				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		GAGATGGCATTCACGCAGCAT	0.493												
GRINL1A	81488	broad.mit.edu	37	15	58001264	58001264	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:58001264T>C	uc002aet.3	+	2	606	c.466T>C	c.(466-468)TCC>CCC	p.S156P	GCOM1_uc002aem.2_Intron|GCOM1_uc002aeq.2_Intron|GCOM1_uc002aen.2_Intron|GCOM1_uc010bfy.2_Intron|GCOM1_uc002aeo.2_Intron|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_Intron|GRINL1A_uc002aes.2_Intron|GRINL1A_uc002aev.1_3'UTR|GRINL1A_uc010ugu.1_RNA|GRINL1A_uc002aeu.3_Intron	NM_015532	NP_056347	P0CAP1	GCOM1_HUMAN	glutamate receptor, ionotropic, N-methyl	247	Potential.				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band					0				all cancers(107;0.0697)|GBM - Glioblastoma multiforme(80;0.12)		GGGCCCAGCTTCCAGCAATAG	0.493												
RNF111	54778	broad.mit.edu	37	15	59368267	59368267	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:59368267A>G	uc002afv.2	+	7	2080	c.1801A>G	c.(1801-1803)ATC>GTC	p.I601V	RNF111_uc002afs.2_Missense_Mutation_p.I601V|RNF111_uc002aft.2_Missense_Mutation_p.I601V|RNF111_uc002afu.2_Missense_Mutation_p.I600V|RNF111_uc002afw.2_Missense_Mutation_p.I601V|RNF111_uc002afx.2_Missense_Mutation_p.I127V	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	601					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)		CCGAGCTGCAATCTTTGGCCA	0.552												
TLN2	83660	broad.mit.edu	37	15	62989927	62989927	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:62989927G>A	uc002alb.3	+	12	1333	c.1333G>A	c.(1333-1335)GCA>ACA	p.A445T		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	445					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GACCGGGAAGGCAGAGCACGG	0.627												
MAP2K1	5604	broad.mit.edu	37	15	66737006	66737006	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:66737006C>A	uc010bhq.2	+	5	1004	c.529C>A	c.(529-531)CTG>ATG	p.L177M	MAP2K1_uc010ujp.1_Missense_Mutation_p.L155M	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	177	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						AATAAAAGGCCTGACATATCT	0.323									Cardiofaciocutaneous_syndrome			
IQCH	64799	broad.mit.edu	37	15	67664873	67664873	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:67664873G>A	uc002aqo.1	+	9	1225	c.1178G>A	c.(1177-1179)CGC>CAC	p.R393H	IQCH_uc010ujv.1_Missense_Mutation_p.R212H|IQCH_uc002aqn.1_Missense_Mutation_p.R220H|IQCH_uc002aqq.1_Missense_Mutation_p.R141H|IQCH_uc002aqp.1_Missense_Mutation_p.R145H	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	393	IQ.									skin(3)|ovary(1)	4				Colorectal(3;0.0856)		CTCTTTTATCGCCAGCAGAAG	0.458												
UACA	55075	broad.mit.edu	37	15	70959562	70959562	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:70959562T>C	uc002asr.2	-	16	3565	c.3461A>G	c.(3460-3462)CAA>CGA	p.Q1154R	UACA_uc010uke.1_Missense_Mutation_p.Q1045R|UACA_uc002asq.2_Missense_Mutation_p.Q1141R|UACA_uc010bin.1_Missense_Mutation_p.Q1129R	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	1154	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						CTCCAACAATTGATGCAGTTT	0.383												
UBL7	84993	broad.mit.edu	37	15	74741564	74741564	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:74741564G>A	uc002axw.1	-	9	1007	c.845C>T	c.(844-846)CCG>CTG	p.P282L	UBL7_uc002axx.1_Missense_Mutation_p.P322L|UBL7_uc010bjr.1_Missense_Mutation_p.P173L|UBL7_uc002axy.1_Missense_Mutation_p.P282L|UBL7_uc002axz.1_Missense_Mutation_p.P282L	NM_032907	NP_116296	Q96S82	UBL7_HUMAN	ubiquitin-like 7	282							protein binding			ovary(1)	1						GCTGCTCTCCGGAGTGCTGGC	0.682												
LMAN1L	79748	broad.mit.edu	37	15	75108840	75108840	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:75108840G>A	uc002ayt.1	+	3	405	c.403G>A	c.(403-405)GGG>AGG	p.G135R	LMAN1L_uc010bkd.2_Missense_Mutation_p.G63R|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.G135R	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	135	Lumenal (Potential).|L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						GGACGGCATCGGGATCTTCTT	0.493												
CSPG4	1464	broad.mit.edu	37	15	75970141	75970141	+	Silent	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:75970141G>T	uc002baw.2	-	9	5130	c.5037C>A	c.(5035-5037)TCC>TCA	p.S1679S		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1679	Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).|CSPG 11.				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						CAGGCGGCGAGGACAGCTGGA	0.622												
CSPG4	1464	broad.mit.edu	37	15	75979870	75979870	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:75979870C>T	uc002baw.2	-	3	3629	c.3536G>A	c.(3535-3537)CGG>CAG	p.R1179Q		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1179	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 7.				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						CTGACCAGCCCGGACTAGCTG	0.657												
MEX3B	84206	broad.mit.edu	37	15	82336148	82336148	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:82336148C>T	uc002bgq.1	-	2	1378	c.1063G>A	c.(1063-1065)GGC>AGC	p.G355S		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	355					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						TCGGGGCAGCCGTCGGGGGAT	0.652												
ADAMTSL3	57188	broad.mit.edu	37	15	84582089	84582089	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:84582089A>G	uc002bjz.3	+	16	2170	c.1946A>G	c.(1945-1947)GAG>GGG	p.E649G	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E649G|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E649G	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	649						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TACGACTGGGAGTACGCTGGG	0.542												
POLG	5428	broad.mit.edu	37	15	89862219	89862219	+	Silent	SNP	G	G	C	rs146936870		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:89862219G>C	uc002bns.3	-	20	3498	c.3216C>G	c.(3214-3216)ACC>ACG	p.T1072T	POLG_uc002bnr.3_Silent_p.T1072T	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	1072					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAGCACCGGGGTACGTGGTA	0.587								DNA_polymerases_(catalytic_subunits)				
TM2D3	80213	broad.mit.edu	37	15	102182698	102182698	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:102182698C>A	uc002bxi.2	-	6	758	c.728G>T	c.(727-729)GGC>GTC	p.G243V	TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_Missense_Mutation_p.G178V|TM2D3_uc002bxj.2_Missense_Mutation_p.G217V|TM2D3_uc002bxk.2_Missense_Mutation_p.G178V	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3 isoform a	243						integral to membrane				ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTACAAAGAGCCATCTGCTGG	0.502												
WDR90	197335	broad.mit.edu	37	16	711649	711649	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:711649C>T	uc002cii.1	+	31	3780	c.3726C>T	c.(3724-3726)CTC>CTT	p.L1242L	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.L769L|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Silent_p.L416L|WDR90_uc002cin.1_5'UTR	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1242	WD 13.									ovary(1)	1		Hepatocellular(780;0.0218)				CCTATGACCTCGTGTCCTCCA	0.687												
SSTR5	6755	broad.mit.edu	37	16	1129861	1129861	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:1129861C>T	uc002ckq.2	+	1	1081	c.993C>T	c.(991-993)GAC>GAT	p.D331D	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	331	Cytoplasmic (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)	AGGACGCTGACGCCACGGAGC	0.662												
TELO2	9894	broad.mit.edu	37	16	1551731	1551731	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:1551731G>A	uc002cly.2	+	11	1720	c.1429G>A	c.(1429-1431)GTC>ATC	p.V477I		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	477						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				GGATGGCGGCGTCCCCCAAGC	0.647												
PKD1	5310	broad.mit.edu	37	16	2164521	2164521	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:2164521G>A	uc002cos.1	-	11	2712	c.2503C>T	c.(2503-2505)CGC>TGC	p.R835C	PKD1_uc002cot.1_Missense_Mutation_p.R835C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	835	Extracellular (Potential).				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						ACGTAGAGGCGGCCGTCGCGG	0.692												
ZNF213	7760	broad.mit.edu	37	16	3190766	3190766	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:3190766C>T	uc010uws.1	+	6	1245	c.798C>T	c.(796-798)AGC>AGT	p.S266S	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Silent_p.S266S|ZNF213_uc010uwt.1_3'UTR	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	266	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGACAGGCAGCGACGTGACTG	0.692												
MEFV	4210	broad.mit.edu	37	16	3293871	3293871	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:3293871T>C	uc002cun.1	-	9	1821	c.1781A>G	c.(1780-1782)CAG>CGG	p.Q594R		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	594	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	AGCATGTGCCTGAGCGCCAAT	0.517												
TIGD7	91151	broad.mit.edu	37	16	3349324	3349324	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:3349324C>A	uc002cus.2	-	1	2077	c.1291G>T	c.(1291-1293)GAA>TAA	p.E431*	ZNF263_uc002cur.2_3'UTR	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	431					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						AACTTAGTTTCCAACTCCCCA	0.358												
CREBBP	1387	broad.mit.edu	37	16	3786719	3786719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:3786719G>A	uc002cvv.2	-	27	4696	c.4492C>T	c.(4492-4494)CGA>TGA	p.R1498*	CREBBP_uc002cvw.2_Nonsense_Mutation_p.R1460*	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1498	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCCTGCAGTCGTTTTGGCTTG	0.507			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
CREBBP	1387	broad.mit.edu	37	16	3808004	3808004	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:3808004T>C	uc002cvv.2	-	18	3619	c.3415A>G	c.(3415-3417)AAG>GAG	p.K1139E	CREBBP_uc002cvw.2_Missense_Mutation_p.K1101E	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1139	Bromo.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCTTCCGCTTGATGGTGGAG	0.463			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
GLIS2	84662	broad.mit.edu	37	16	4384870	4384870	+	Silent	SNP	C	C	T	rs145025457		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:4384870C>T	uc002cwc.1	+	3	471	c.414C>T	c.(412-414)TCC>TCT	p.S138S		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	138	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding				0						CCCTCGGCTCCGGGGGGGCCC	0.657												
PPL	5493	broad.mit.edu	37	16	4935616	4935616	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:4935616G>A	uc002cyd.1	-	22	3130	c.3040C>T	c.(3040-3042)CGG>TGG	p.R1014W		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1014	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						AGCTCCTCCCGCAGCTGCAAG	0.687												
CLEC16A	23274	broad.mit.edu	37	16	11154827	11154827	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:11154827G>A	uc002dao.2	+	19	2294	c.2064G>A	c.(2062-2064)TTG>TTA	p.L688L	CLEC16A_uc002dan.3_Silent_p.L670L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	688										ovary(1)|central_nervous_system(1)	2						AGACACAGTTGCCGCTGACTC	0.577												
RUNDC2A	84127	broad.mit.edu	37	16	12142456	12142456	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:12142456G>A	uc002dbw.1	+	7	789	c.727G>A	c.(727-729)GTG>ATG	p.V243M		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	243										ovary(1)	1						CTTGCCTGTCGTGTCCAGGAA	0.577			T	CIITA	PMBL|Hodgkin Lymphona|							
TMC5	79838	broad.mit.edu	37	16	19451843	19451843	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:19451843G>A	uc002dgc.3	+	3	1232	c.483G>A	c.(481-483)CCG>CCA	p.P161P	TMC5_uc010vaq.1_Silent_p.P161P|TMC5_uc002dgb.3_Silent_p.P161P|TMC5_uc010var.1_Silent_p.P161P	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	161	Extracellular (Potential).					integral to membrane				skin(1)	1						CCTTAGAACCGGACTACCCTG	0.478												
GDE1	51573	broad.mit.edu	37	16	19528399	19528399	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:19528399C>T	uc002dgh.2	-	2	538	c.374G>A	c.(373-375)CGA>CAA	p.R125Q	GDE1_uc002dgi.2_Missense_Mutation_p.R15Q	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	125	Lumenal (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						ATCACACAATCGCCCAGTCCC	0.433												
ZP2	7783	broad.mit.edu	37	16	21221474	21221474	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:21221474A>G	uc002dii.2	-	3	191	c.191T>C	c.(190-192)TTC>TCC	p.F64S	ZP2_uc010bwn.1_Missense_Mutation_p.F103S|ZP2_uc010bwo.2_Missense_Mutation_p.F103S	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	64	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)		ACTGCTTGGGAACTCCACTGT	0.478												
USP31	57478	broad.mit.edu	37	16	23080493	23080493	+	Missense_Mutation	SNP	G	G	A	rs148943431		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:23080493G>A	uc002dll.2	-	16	2933	c.2933C>T	c.(2932-2934)CCG>CTG	p.P978L	USP31_uc002dlk.2_Missense_Mutation_p.P250L|USP31_uc010vca.1_Missense_Mutation_p.P281L|USP31_uc010bxm.2_Missense_Mutation_p.P266L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	978	Ser-rich.				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)		ACCAGAGAGCGGGGGCAGGCG	0.522												
COG7	91949	broad.mit.edu	37	16	23415109	23415109	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:23415109G>A	uc002dlo.2	-	13	1897	c.1709C>T	c.(1708-1710)GCG>GTG	p.A570V		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	570					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)		CCGAGTCAGCGCTGCTCGAGG	0.512												
CACNG3	10368	broad.mit.edu	37	16	24372735	24372735	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:24372735C>T	uc002dmf.2	+	4	1699	c.499C>T	c.(499-501)CGT>TGT	p.R167C		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	167					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		CCCCGGGCAGCGTGACTCCAA	0.443												
KIAA0556	23247	broad.mit.edu	37	16	27761019	27761019	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:27761019G>A	uc002dow.2	+	16	2762	c.2738G>A	c.(2737-2739)CGC>CAC	p.R913H		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	913										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CACCGGGGACGCATCTCCAAC	0.647												
KIAA0556	23247	broad.mit.edu	37	16	27765529	27765529	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:27765529C>T	uc002dow.2	+	18	3612	c.3588C>T	c.(3586-3588)GTC>GTT	p.V1196V		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1196										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						GTTCCCCTGTCCCCCAAGTCA	0.582												
GSG1L	146395	broad.mit.edu	37	16	27802759	27802759	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:27802759G>C	uc002doz.2	-	7	1013	c.928C>G	c.(928-930)CCC>GCC	p.P310A	GSG1L_uc010bya.1_Missense_Mutation_p.P259A|GSG1L_uc010bxz.1_Missense_Mutation_p.P173A|GSG1L_uc002doy.2_Missense_Mutation_p.P155A	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN	GSG1-like isoform 1	310						integral to membrane				ovary(1)	1						GAGCTCCGGGGCCAGGAATCC	0.647												
TUFM	7284	broad.mit.edu	37	16	28856346	28856346	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:28856346C>T	uc002drh.2	-	4	584	c.445G>A	c.(445-447)GGC>AGC	p.G149S	uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	146						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			ovary(1)	1						AGGATGCAGCCGTCGAGGGGT	0.542												
MVP	9961	broad.mit.edu	37	16	29853263	29853263	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:29853263G>A	uc002dui.2	+	10	1548	c.1464G>A	c.(1462-1464)TCG>TCA	p.S488S	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Silent_p.S488S|MVP_uc010vea.1_Silent_p.S82S	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	488	MVP 9.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						AGCTGGTGTCGCTGGGTCCTG	0.672												
SEZ6L2	26470	broad.mit.edu	37	16	29891335	29891335	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:29891335T>C	uc002duq.3	-	9	1663	c.1423A>G	c.(1423-1425)ACT>GCT	p.T475A	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T405A|SEZ6L2_uc002dur.3_Missense_Mutation_p.T405A|SEZ6L2_uc002dus.3_Missense_Mutation_p.T361A|SEZ6L2_uc010vec.1_Missense_Mutation_p.T475A|SEZ6L2_uc010ved.1_Missense_Mutation_p.T431A	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	475	Sushi 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						TCCGTGGTAGTGACATTTCCA	0.587												
SRCAP	10847	broad.mit.edu	37	16	30735442	30735442	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:30735442C>T	uc002dze.1	+	25	5082	c.4697C>T	c.(4696-4698)GCT>GTT	p.A1566V	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.A1361V|SRCAP_uc010bzz.1_Missense_Mutation_p.A1136V	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1566	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CCAAATCCAGCTCCAGCTCAG	0.592												
C16orf93	90835	broad.mit.edu	37	16	30768894	30768894	+	Missense_Mutation	SNP	C	C	T	rs138413324	by1000genomes	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:30768894C>T	uc002dzm.2	-	9	1230	c.899G>A	c.(898-900)CGG>CAG	p.R300Q	C16orf93_uc002dzn.2_Missense_Mutation_p.R365Q|C16orf93_uc002dzo.2_Missense_Mutation_p.R263Q	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	hypothetical protein LOC90835	300	Potential.										0						GGCCTTGAGCCGCTCCTCCAC	0.602												
MYST1	84148	broad.mit.edu	37	16	31131792	31131792	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:31131792G>A	uc002eay.2	+	3	437	c.419G>A	c.(418-420)CGC>CAC	p.R140H	MYST1_uc002eax.2_Missense_Mutation_p.R140H	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	140					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						AAGATCACTCGCAACCAAAAG	0.572												
PRSS36	146547	broad.mit.edu	37	16	31152917	31152917	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:31152917G>A	uc002ebd.2	-	12	1833	c.1774C>T	c.(1774-1776)CTG>TTG	p.L592L	PRSS36_uc010vff.1_Silent_p.L367L|PRSS36_uc010vfg.1_Silent_p.L587L|PRSS36_uc010vfh.1_Silent_p.L592L	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	592	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						GCAGCCTCCAGCCGCAGGCCA	0.687												
ITGAX	3687	broad.mit.edu	37	16	31383749	31383749	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:31383749G>A	uc002ebu.1	+	18	2278	c.2211G>A	c.(2209-2211)ACG>ACA	p.T737T	ITGAX_uc002ebt.2_Silent_p.T737T	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	737	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGAACTTCACGCTGGTGGGCA	0.637												
ITGAD	3681	broad.mit.edu	37	16	31426276	31426276	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:31426276G>A	uc002ebv.1	+	18	2296	c.2247G>A	c.(2245-2247)GTG>GTA	p.V749V	ITGAD_uc010cap.1_Silent_p.V750V	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	749	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						TGCGTCCTGTGCTGGCCGTGG	0.537												
RPGRIP1L	23322	broad.mit.edu	37	16	53720489	53720489	+	Splice_Site	SNP	C	C	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:53720489C>G	uc002ehp.2	-	6	697	c.633_splice	c.e6-1	p.L211_splice	RPGRIP1L_uc002eho.3_Splice_Site_p.L211_splice|RPGRIP1L_uc010vgy.1_Splice_Site_p.L211_splice|RPGRIP1L_uc010cbx.2_Splice_Site_p.L211_splice|RPGRIP1L_uc010vgz.1_Splice_Site_p.L211_splice|RPGRIP1L_uc002ehq.1_Splice_Site_p.L211_splice	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a						negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				AACGTTTTCTCTGAAATAAAG	0.363												
BBS2	583	broad.mit.edu	37	16	56536710	56536710	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:56536710C>T	uc002ejd.2	-	8	1049	c.815G>A	c.(814-816)CGA>CAA	p.R272Q	BBS2_uc010ccg.2_Missense_Mutation_p.R272Q	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	272					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						TCGGTCACTTCGAGCATCAAC	0.363									Bardet-Biedl_syndrome			
CCDC102A	92922	broad.mit.edu	37	16	57551998	57551998	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:57551998C>T	uc002elw.2	-	6	1443	c.1230G>A	c.(1228-1230)GCG>GCA	p.A410A		NM_033212	NP_149989	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	410										ovary(1)	1						TCTCGAAGAGCGCGGCCTGGC	0.682												
GPR97	222487	broad.mit.edu	37	16	57713135	57713135	+	Missense_Mutation	SNP	G	G	A	rs149201757		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:57713135G>A	uc002emh.2	+	5	642	c.539G>A	c.(538-540)CGC>CAC	p.R180H	GPR97_uc010vhv.1_Missense_Mutation_p.R60H|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'Flank	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	180	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						TTGAACAATCGCCTGGTGGGT	0.637												
EXOC3L	283849	broad.mit.edu	37	16	67222785	67222785	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:67222785G>A	uc002erx.1	-	4	507	c.266C>T	c.(265-267)GCC>GTC	p.A89V	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Intron|EXOC3L_uc010vje.1_Intron	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	89	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		CACCTCAATGGCCTGGGCCAG	0.642												
ELMO3	79767	broad.mit.edu	37	16	67235910	67235910	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:67235910G>A	uc002esa.2	+	12	1283	c.1240G>A	c.(1240-1242)GTG>ATG	p.V414M	ELMO3_uc002esb.2_Missense_Mutation_p.V397M|ELMO3_uc002esc.2_Missense_Mutation_p.V248M	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	361	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CCTGGAGCGCGTGCCCCCCGG	0.667												
ACD	65057	broad.mit.edu	37	16	67692248	67692248	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:67692248C>T	uc002etq.3	-	10	1442	c.1105G>A	c.(1105-1107)GGC>AGC	p.G369S	ACD_uc002etp.3_Missense_Mutation_p.G366S|ACD_uc002etr.3_Missense_Mutation_p.G366S|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	369	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GACATGTGGCCGGGTAAGGCC	0.632												
CDH1	999	broad.mit.edu	37	16	68844099	68844099	+	Splice_Site	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:68844099G>A	uc002ewg.1	+	6	812	c.688_splice	c.e6-1	p.L230_splice	CDH1_uc010vlj.1_Splice_Site|CDH1_uc010cfg.1_Splice_Site_p.L230_splice	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein						adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGTTCTTTCAGCTCTTCTCTC	0.527			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer			
DDX19B	11269	broad.mit.edu	37	16	70351442	70351442	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:70351442C>T	uc002eyo.2	+	5	469	c.340C>T	c.(340-342)CGT>TGT	p.R114C	DDX19B_uc010vly.1_Missense_Mutation_p.R114C|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Intron|DDX19B_uc010vlw.1_Missense_Mutation_p.R5C|DDX19B_uc002eyp.2_Intron|DDX19B_uc002eyq.2_Missense_Mutation_p.R5C|DDX19B_uc002eyr.2_Intron|DDX19B_uc010vlx.1_Intron|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	114	Q motif.				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)				GGGTTTCAATCGTCCATCCAA	0.398												
DDX19A	55308	broad.mit.edu	37	16	70384460	70384460	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:70384460A>C	uc002eyv.2	+	2	129	c.58A>C	c.(58-60)ATG>CTG	p.M20L	DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Intron|DDX19A_uc010cfq.1_5'UTR|DDX19A_uc010cfr.2_5'UTR|DDX19A_uc010cfs.2_5'UTR|DDX19A_uc010vlz.1_Missense_Mutation_p.M20L	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN	DDX19-like protein	20					mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)				TTCTATTCAGATGACCAATTT	0.378												
COG4	25839	broad.mit.edu	37	16	70524291	70524291	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:70524291G>T	uc002ezc.2	-	13	1663	c.1652C>A	c.(1651-1653)ACT>AAT	p.T551N	COG4_uc002eza.2_5'UTR|COG4_uc002ezb.2_Intron|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Intron|COG4_uc002eze.2_Missense_Mutation_p.T245N	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	547					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				GTTGTTCAGAGTCACCTGGGA	0.522												
PHLPP2	23035	broad.mit.edu	37	16	71683682	71683682	+	Missense_Mutation	SNP	G	G	A	rs148247641	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:71683682G>A	uc002fax.2	-	18	3089	c.3083C>T	c.(3082-3084)GCG>GTG	p.A1028V	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Missense_Mutation_p.A961V	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	1028	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						AACTACCATCGCCCCTACATT	0.493												
DHX38	9785	broad.mit.edu	37	16	72138492	72138492	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:72138492C>T	uc002fcb.2	+	15	2473	c.2118C>T	c.(2116-2118)GGC>GGT	p.G706G	DHX38_uc010vmp.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	706					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				ACATCCCTGGCCGTACCTTCC	0.547												
ZFHX3	463	broad.mit.edu	37	16	72991559	72991559	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:72991559A>G	uc002fck.2	-	2	3159	c.2486T>C	c.(2485-2487)ATG>ACG	p.M829T	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	829					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)				CATGTTATGCATGTGCTTCTC	0.562												
ZFHX3	463	broad.mit.edu	37	16	72993336	72993336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:72993336G>A	uc002fck.2	-	2	1382	c.709C>T	c.(709-711)CGA>TGA	p.R237*	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	237					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)				CTTTTGTGTCGCACGTCAAAC	0.552												
ADAMTS18	170692	broad.mit.edu	37	16	77387780	77387780	+	Silent	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:77387780T>G	uc002ffc.3	-	10	1883	c.1464A>C	c.(1462-1464)ACA>ACC	p.T488T	ADAMTS18_uc010chc.1_Silent_p.T76T|ADAMTS18_uc002ffe.1_Silent_p.T184T	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	488	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CCGCCTGAGGTGTGCTGTAAT	0.408												
GAN	8139	broad.mit.edu	37	16	81398592	81398592	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:81398592C>T	uc002fgo.2	+	8	1398	c.1250C>T	c.(1249-1251)GCA>GTA	p.A417V		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	417	Kelch 3.				cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				GGCTGCTATGCAGCTATGAAA	0.478												
ZC3H18	124245	broad.mit.edu	37	16	88675419	88675419	+	Missense_Mutation	SNP	G	G	T	rs116570026	by1000genomes	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:88675419G>T	uc002fky.2	+	7	1366	c.1166G>T	c.(1165-1167)AGG>ATG	p.R389M	ZC3H18_uc010voy.1_Missense_Mutation_p.R272M|ZC3H18_uc010voz.1_Missense_Mutation_p.R413M|ZC3H18_uc010chw.2_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	389						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GAGAATTTCAGGGTGCAGTAT	0.408												
ANKRD11	29123	broad.mit.edu	37	16	89349977	89349977	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:89349977G>A	uc002fmx.1	-	9	3434	c.2973C>T	c.(2971-2973)GGC>GGT	p.G991G	ANKRD11_uc002fmy.1_Silent_p.G991G|ANKRD11_uc002fnc.1_Silent_p.G991G|ANKRD11_uc002fnb.1_Silent_p.G948G	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	991	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)		TCCCAAAGTCGCCGTCGGACT	0.627												
C17orf97	400566	broad.mit.edu	37	17	263291	263291	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:263291C>T	uc002frh.2	+	3	703	c.687C>T	c.(685-687)CCC>CCT	p.P229P	C17orf97_uc010vpz.1_RNA	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	hypothetical protein LOC400566	229	3.|20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									ovary(1)	1						ACCCCGACCCCGACGCCCTCA	0.667												
PRPF8	10594	broad.mit.edu	37	17	1576732	1576732	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:1576732G>A	uc002fte.2	-	23	3690	c.3576C>T	c.(3574-3576)TTC>TTT	p.F1192F		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1192						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)		TGCGGCACTCGAAGCCACACA	0.572												
RTN4RL1	146760	broad.mit.edu	37	17	1840671	1840671	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:1840671G>A	uc002ftp.2	-	2	464	c.445C>T	c.(445-447)CAC>TAC	p.H149Y		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor	149					axon regeneration	anchored to plasma membrane	receptor activity				0						TGCAGGCTGTGCAGGCCGCCA	0.622												
HIC1	3090	broad.mit.edu	37	17	1960262	1960262	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:1960262C>T	uc010cjy.2	+	2	335	c.335C>T	c.(334-336)GCG>GTG	p.A112V	HIC1_uc002fty.3_Missense_Mutation_p.A93V|HIC1_uc002ftz.3_Missense_Mutation_p.A93V	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	112	Poly-Ala.				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		GGCGCAGAGGCGGCTGCGGCC	0.726												
HIC1	3090	broad.mit.edu	37	17	1961289	1961289	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:1961289G>A	uc010cjy.2	+	2	1362	c.1362G>A	c.(1360-1362)GCG>GCA	p.A454A	HIC1_uc002fty.3_Silent_p.A435A|HIC1_uc002ftz.3_Silent_p.A435A	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	454	C2H2-type 1.				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		AGCTGAACGCGCACGTGGAGG	0.692												
SGSM2	9905	broad.mit.edu	37	17	2282757	2282757	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:2282757C>G	uc002fun.3	+	23	3139	c.2964C>G	c.(2962-2964)ATC>ATG	p.I988M	SGSM2_uc002fum.3_Missense_Mutation_p.I1033M|SGSM2_uc010vqw.1_Intron|SGSM2_uc002fup.1_3'UTR|SGSM2_uc002fuq.2_Missense_Mutation_p.I150M	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	988						intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCCAGGAGATCCTGCGGATTG	0.617												
GSG2	83903	broad.mit.edu	37	17	3629365	3629365	+	Silent	SNP	C	C	T	rs146730005		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:3629365C>T	uc002fwp.2	+	1	2169	c.2136C>T	c.(2134-2136)ACC>ACT	p.T712T	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	712	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						ACCTGTTTACCGGTGACGGTG	0.488												
ZZEF1	23140	broad.mit.edu	37	17	3980228	3980228	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:3980228C>T	uc002fxe.2	-	20	3109	c.3045G>A	c.(3043-3045)CAG>CAA	p.Q1015Q	ZZEF1_uc002fxk.1_Silent_p.Q1016Q	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1015							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TTCCACTGTACTGTGAGAAAA	0.363												
ANKFY1	51479	broad.mit.edu	37	17	4139185	4139185	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:4139185G>A	uc002fxq.1	-	3	242	c.204C>T	c.(202-204)AGC>AGT	p.S68S	ANKFY1_uc002fxn.2_Silent_p.S110S|ANKFY1_uc002fxo.2_Silent_p.S68S|ANKFY1_uc002fxp.2_Silent_p.S68S|ANKFY1_uc010ckp.2_Intron|ANKFY1_uc002fxr.2_Silent_p.S68S|ANKFY1_uc010vrz.1_Silent_p.S68S	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	68	BTB.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						TCTTCAGATCGCTGATGAAGA	0.423												
RNF167	26001	broad.mit.edu	37	17	4846555	4846555	+	Silent	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:4846555G>T	uc002fzq.2	+	8	968	c.552G>T	c.(550-552)CTG>CTT	p.L184L	RNF167_uc002fzr.2_Silent_p.L184L|RNF167_uc002fzs.2_Silent_p.L184L|RNF167_uc002fzt.2_Silent_p.L184L|RNF167_uc002fzu.2_Silent_p.L184L|RNF167_uc002fzv.2_Silent_p.L149L|RNF167_uc002fzx.2_Silent_p.L149L|RNF167_uc002fzy.2_5'Flank	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167 precursor	184	Helical; (Potential).				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						TGGGACTGCTGGTTTTGGCCA	0.547												
CAMTA2	23125	broad.mit.edu	37	17	4876222	4876222	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:4876222G>A	uc002gah.1	-	15	2453	c.2345C>T	c.(2344-2346)GCA>GTA	p.A782V	CAMTA2_uc010cku.1_Missense_Mutation_p.A805V|CAMTA2_uc002gag.1_Missense_Mutation_p.A781V|CAMTA2_uc002gai.1_Missense_Mutation_p.A784V|CAMTA2_uc010ckv.1_Missense_Mutation_p.A429V	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	782	ANK 2.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						AATGCTCAGTGCCTGTCGGTT	0.622												
NLRP1	22861	broad.mit.edu	37	17	5437297	5437297	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:5437297A>G	uc002gci.2	-	9	3527	c.2972T>C	c.(2971-2973)GTG>GCG	p.V991A	NLRP1_uc002gcg.1_Missense_Mutation_p.V991A|NLRP1_uc002gck.2_Missense_Mutation_p.V991A|NLRP1_uc002gcj.2_Missense_Mutation_p.V961A|NLRP1_uc002gcl.2_Missense_Mutation_p.V961A|NLRP1_uc002gch.3_Missense_Mutation_p.V991A|NLRP1_uc010clh.2_Missense_Mutation_p.V991A	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	991					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				AGGGGTCATCACACTTGGTTT	0.498												
XAF1	54739	broad.mit.edu	37	17	6663872	6663872	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:6663872G>A	uc002gdn.2	+	4	615	c.373G>A	c.(373-375)GCC>ACC	p.A125T	XAF1_uc010clr.1_Missense_Mutation_p.A125T|XAF1_uc002gdm.1_Missense_Mutation_p.A65T|XAF1_uc002gdo.2_Missense_Mutation_p.A106T|XAF1_uc002gdp.2_Silent_p.S102S|XAF1_uc002gdq.2_Intron|XAF1_uc002gdr.2_Silent_p.S83S	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1 isoform 1	125					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding				0						CCGCATGCTCGCCCAGCACAG	0.592												
SLC16A11	162515	broad.mit.edu	37	17	6945994	6945994	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:6945994C>T	uc002gei.1	-	3	845	c.507G>A	c.(505-507)GCG>GCA	p.A169A		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	169	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)	1						TGCCGGTGAGCGCCAGCCCCA	0.682												
SLC2A4	6517	broad.mit.edu	37	17	7186847	7186847	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:7186847C>T	uc002gfp.2	+	3	406	c.206C>T	c.(205-207)CCC>CTC	p.P69L	SLC2A4_uc002gfo.2_Missense_Mutation_p.P69L|SLC2A4_uc010cmd.2_RNA	NM_001042	NP_001033	P14672	GTR4_HUMAN	glucose transporter 4	69	Extracellular (Potential).				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding				0						CCTGAGGGACCCAGCTCCATC	0.602												
NEURL4	84461	broad.mit.edu	37	17	7221114	7221114	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:7221114T>C	uc002gga.1	-	26	4205	c.4198A>G	c.(4198-4200)AAC>GAC	p.N1400D	GPS2_uc002gfv.1_5'Flank|GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Missense_Mutation_p.N1398D	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1400							protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						TACCTGAGGTTGAACCTGCAC	0.567												
KCTD11	147040	broad.mit.edu	37	17	7256534	7256534	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:7256534C>T	uc002gge.3	+	1	1327	c.273C>T	c.(271-273)CAC>CAT	p.H91H	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	potassium channel tetramerisation domain	91					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Prostate(122;0.157)				CCCTGCTCCACGCAGATGTAG	0.662												
ZBTB4	57659	broad.mit.edu	37	17	7366640	7366640	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:7366640G>A	uc002ghc.3	-	4	1911	c.1661C>T	c.(1660-1662)ACG>ATG	p.T554M	ZBTB4_uc002ghd.3_Missense_Mutation_p.T554M	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGCCTCCTCCGTGGTGGTGGC	0.682												
ZBTB4	57659	broad.mit.edu	37	17	7369845	7369845	+	Silent	SNP	C	C	T	rs145401608		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:7369845C>T	uc002ghc.3	-	3	526	c.276G>A	c.(274-276)TCG>TCA	p.S92S	ZBTB4_uc002ghd.3_Silent_p.S92S	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	92	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		aggaagaagacgaggaagagg	0.418												
TNFSF12-TNFSF13	407977	broad.mit.edu	37	17	7463187	7463187	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:7463187T>C	uc002ghi.1	+	8	657	c.602T>C	c.(601-603)GTT>GCT	p.V201A	SENP3_uc002ghm.2_5'Flank|TNFSF13_uc002ghj.2_Missense_Mutation_p.V121A|TNFSF13_uc002ghk.2_Missense_Mutation_p.V121A|TNFSF13_uc002ghl.2_Intron|TNFSF13_uc010cmk.2_Missense_Mutation_p.V94A|TNFSF13_uc010vua.1_Missense_Mutation_p.V93A	NM_172089	NP_742086	Q8IZK7	Q8IZK7_HUMAN	TNFSF12-TNFSF13 protein	201					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding				0		Prostate(122;0.157)				CTGCACCTGGTTCCCATTAAC	0.567											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
STX8	9482	broad.mit.edu	37	17	9395197	9395197	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:9395197G>A	uc002glx.2	-	6	640	c.490C>T	c.(490-492)CGC>TGC	p.R164C		NM_004853	NP_004844	Q9UNK0	STX8_HUMAN	syntaxin 8	164	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1						TGTTTTTGGCGACTTATGATA	0.363												
MYH8	4626	broad.mit.edu	37	17	10304654	10304654	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:10304654C>A	uc002gmm.2	-	24	3141	c.3046G>T	c.(3046-3048)GAG>TAG	p.E1016*	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1016	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TTGTCCTCCTCTGCCTGCAGG	0.453									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
MYH1	4619	broad.mit.edu	37	17	10399358	10399358	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:10399358C>T	uc002gmo.2	-	35	5172	c.5078G>A	c.(5077-5079)CGG>CAG	p.R1693Q	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1693	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						CAGAGTGGCCCGCAGCTCCTC	0.597												
MYH1	4619	broad.mit.edu	37	17	10399610	10399610	+	Missense_Mutation	SNP	C	C	T	rs146429782	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:10399610C>T	uc002gmo.2	-	34	5007	c.4913G>A	c.(4912-4914)CGC>CAC	p.R1638H	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1638	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1638C(1)		ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						AGCAGCCATGCGGTTGGCATG	0.507												
RICH2	9912	broad.mit.edu	37	17	12847420	12847420	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:12847420G>A	uc002gnr.3	+	10	1095	c.768G>A	c.(766-768)CCG>CCA	p.P256P	RICH2_uc010vvk.1_Silent_p.P256P|RICH2_uc010vvl.1_Silent_p.P256P|RICH2_uc002gns.3_Silent_p.P56P|RICH2_uc010vvm.1_Silent_p.P256P|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_5'UTR	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	256	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TCGGGAAGCCGCTGGAGGAGC	0.597												
ZNF287	57336	broad.mit.edu	37	17	16455348	16455348	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:16455348G>T	uc002gqi.2	-	6	2561	c.2108C>A	c.(2107-2109)CCC>CAC	p.P703H		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	696					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ACATTTATAGGGTCTCTCTCC	0.368												
MPRIP	23164	broad.mit.edu	37	17	17030083	17030083	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:17030083G>A	uc002gqu.1	+	4	391	c.335G>A	c.(334-336)CGC>CAC	p.R112H	MPRIP_uc002gqv.1_Missense_Mutation_p.R112H	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	112	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding				0						GGGGAGGGCCGCACGGGCCAG	0.597												
MPRIP	23164	broad.mit.edu	37	17	17053492	17053492	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:17053492C>T	uc002gqu.1	+	12	1366	c.1310C>T	c.(1309-1311)GCA>GTA	p.A437V	MPRIP_uc002gqv.1_Missense_Mutation_p.A437V|MPRIP_uc002gqw.1_Missense_Mutation_p.A192V	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	437	PH 2.					cytoplasm|cytoskeleton	actin binding				0						GACTTGTCCGCATGTTACGAT	0.488												
CCDC144B	284047	broad.mit.edu	37	17	18486027	18486027	+	RNA	SNP	A	A	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:18486027A>T	uc002gua.3	-	11		c.2446T>A								Homo sapiens cDNA FLJ36492 fis, clone THYMU2018455.											ovary(1)|skin(1)	2						ACTTGTCAGAATCTGATCTTG	0.343												
EPN2	22905	broad.mit.edu	37	17	19232061	19232061	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:19232061G>A	uc002gvd.3	+	8	1633	c.1185G>A	c.(1183-1185)GTG>GTA	p.V395V	EPN2_uc010cql.1_Silent_p.V104V|EPN2_uc002gve.3_Silent_p.V338V|EPN2_uc002gvf.3_Silent_p.V110V|EPN2_uc010vyo.1_Silent_p.V103V|EPN2_uc010vyp.1_Silent_p.V331V|EPN2_uc010vyq.1_Silent_p.V332V|EPN2_uc002gvh.1_Silent_p.V395V|EPN2_uc002gvj.3_Silent_p.V58V	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	395	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CATGGGGGGTGCCCACTGGAG	0.612												
TMEM11	8834	broad.mit.edu	37	17	21101784	21101784	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:21101784C>T	uc002gyp.2	-	2	875	c.432G>A	c.(430-432)TCG>TCA	p.S144S	TMEM11_uc002gyq.2_3'UTR	NM_003876	NP_003867	P17152	TMM11_HUMAN	transmembrane protein 11	144					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding				0						GAGGCAGGCGCGACAGTTTAT	0.597												
NOS2	4843	broad.mit.edu	37	17	26105983	26105983	+	Silent	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:26105983G>T	uc002gzu.2	-	10	1368	c.1104C>A	c.(1102-1104)CCC>CCA	p.P368P	NOS2_uc010crh.1_Silent_p.P368P|NOS2_uc010wab.1_Silent_p.P368P	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	368					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGCCATTGAAGGGGCACCCTG	0.607												
NOS2	4843	broad.mit.edu	37	17	26107891	26107891	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:26107891G>A	uc002gzu.2	-	9	1170	c.906C>T	c.(904-906)TTC>TTT	p.F302F	NOS2_uc010crh.1_Silent_p.F302F|NOS2_uc010wab.1_Silent_p.F302F	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	302					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGACCACATCGAAGCGGCCGT	0.622												
NOS2	4843	broad.mit.edu	37	17	26108173	26108173	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:26108173A>G	uc002gzu.2	-	8	1017	c.753T>C	c.(751-753)AGT>AGC	p.S251S	NOS2_uc010crh.1_Silent_p.S251S|NOS2_uc010wab.1_Silent_p.S251S	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	251					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCTTGCCATCACTCCGCTGGG	0.622												
SLC13A2	9058	broad.mit.edu	37	17	26820707	26820707	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:26820707A>C	uc002hbh.2	+	7	1064	c.997A>C	c.(997-999)AGC>CGC	p.S333R	SLC13A2_uc010wal.1_Missense_Mutation_p.S290R|SLC13A2_uc010wam.1_Missense_Mutation_p.S289R|SLC13A2_uc010wan.1_Missense_Mutation_p.S382R|SLC13A2_uc010wao.1_Missense_Mutation_p.S290R|SLC13A2_uc002hbi.2_Missense_Mutation_p.S262R	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	333	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	AAAGGCCATCAGCATCCTATT	0.572												
TRAF4	9618	broad.mit.edu	37	17	27071132	27071132	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:27071132T>C	uc002hcs.2	+	1	110	c.2T>C	c.(1-3)ATG>ACG	p.M1T	TRAF4_uc002hcq.1_Missense_Mutation_p.M1T	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	1					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TCGCCCGCCATGCCTGGCTTC	0.751												
CRYBA1	1411	broad.mit.edu	37	17	27579207	27579207	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:27579207G>A	uc002hdw.2	+	4	348	c.341G>A	c.(340-342)CGC>CAC	p.R114H		NM_005208	NP_005199	P05813	CRBA1_HUMAN	crystallin, beta A3	114	Beta/gamma crystallin 'Greek key' 2.				visual perception	soluble fraction	structural constituent of eye lens				0			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATGTCCTTCCGCCCCATCTGT	0.507											OREG0024293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AATF	26574	broad.mit.edu	37	17	35306443	35306443	+	Silent	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:35306443C>A	uc002hni.2	+	1	269	c.18C>A	c.(16-18)CCC>CCA	p.P6P	AATF_uc002hnj.2_RNA	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	6					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)				GGCCGCAGCCCCTGGCGCTGC	0.697												
SYNRG	11276	broad.mit.edu	37	17	35921614	35921614	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:35921614A>C	uc002hoa.2	-	12	1642	c.1559T>G	c.(1558-1560)ATT>AGT	p.I520S	SYNRG_uc010wde.1_Missense_Mutation_p.I442S|SYNRG_uc010wdf.1_Missense_Mutation_p.I442S|SYNRG_uc002hoc.2_Missense_Mutation_p.I441S|SYNRG_uc002hoe.2_Missense_Mutation_p.I442S|SYNRG_uc002hod.2_Missense_Mutation_p.I442S|SYNRG_uc010wdg.1_Missense_Mutation_p.I359S|SYNRG_uc002hob.2_Missense_Mutation_p.I520S|SYNRG_uc002hof.2_Missense_Mutation_p.I232S|SYNRG_uc010cvd.1_Missense_Mutation_p.I320S	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	520	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						GTCAGCTGCAATTCCTTTAAA	0.353												
PCGF2	7703	broad.mit.edu	37	17	36895090	36895090	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:36895090C>T	uc002hqp.1	-	7	584	c.341G>A	c.(340-342)CGC>CAC	p.R114H	PCGF2_uc002hqn.1_Missense_Mutation_p.R114H|PCGF2_uc002hqo.1_Missense_Mutation_p.R114H|PCGF2_uc010cvo.1_5'UTR|PCGF2_uc002hqq.1_Missense_Mutation_p.R114H	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	114					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2	Breast(7;9.07e-22)					GACCTCGCCGCGGTCCTCATT	0.587												
CDK12	51755	broad.mit.edu	37	17	37650838	37650838	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:37650838A>G	uc010cvv.2	+	5	2896	c.2310A>G	c.(2308-2310)ACA>ACG	p.T770T	CDK12_uc010wef.1_Silent_p.T769T|CDK12_uc002hrw.3_Silent_p.T770T	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	770	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						TCCCAATCACAGCCATTCGTG	0.269										TCGA Ovarian(9;0.13)		
ERBB2	2064	broad.mit.edu	37	17	37881000	37881000	+	Missense_Mutation	SNP	G	G	A	rs121913471		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:37881000G>A	uc002hso.2	+	20	2567	c.2329G>A	c.(2329-2331)GTG>ATG	p.V777M	ERBB2_uc002hsm.2_Missense_Mutation_p.V747M|ERBB2_uc010cwa.2_Missense_Mutation_p.V762M|ERBB2_uc002hsp.2_Missense_Mutation_p.V580M|ERBB2_uc010cwb.2_Missense_Mutation_p.V777M|ERBB2_uc010wek.1_Missense_Mutation_p.V501M	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	777	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V777L(5)|p.V777A(2)|p.V777M(1)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	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)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GATGGCTGGTGTGGGCTCCCC	0.577		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)		
SMARCE1	6605	broad.mit.edu	37	17	38792295	38792295	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:38792295T>C	uc002hux.2	-	7	553	c.429A>G	c.(427-429)ATA>ATG	p.I143M	SMARCE1_uc010wff.1_Missense_Mutation_p.I108M|SMARCE1_uc010wfg.1_Missense_Mutation_p.I73M|SMARCE1_uc002huy.2_Missense_Mutation_p.I108M|SMARCE1_uc010wfh.1_Missense_Mutation_p.I73M|SMARCE1_uc010wfi.1_Missense_Mutation_p.I125M|SMARCE1_uc002huz.1_Missense_Mutation_p.I108M|SMARCE1_uc010wfj.1_Missense_Mutation_p.I125M	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	143					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				TTTTTGCATTTATGTAAGCAA	0.383												
KRT39	390792	broad.mit.edu	37	17	39116718	39116718	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:39116718C>T	uc002hvo.1	-	6	1068	c.1032G>A	c.(1030-1032)GAG>GAA	p.E344E	KRT39_uc010wfm.1_Silent_p.E77E	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	344	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)				TGTAGCGAGCCTCTGTCTCCG	0.512												
KRTAP4-4	84616	broad.mit.edu	37	17	39316761	39316761	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:39316761G>A	uc002hwc.2	-	1	223	c.183C>T	c.(181-183)TGC>TGT	p.C61C		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	keratin associated protein 4.4	61	9.|26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCTGGGGTGGCAGCAGGTGG	0.662												
KRTAP9-9	81870	broad.mit.edu	37	17	39412120	39412120	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:39412120C>T	uc010wfq.1	+	3	440	c.438C>T	c.(436-438)TCC>TCT	p.S146S		NM_030975	NP_112237	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	161						keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGTGTGTCCAGCTGCTGCC	0.562												
JUP	3728	broad.mit.edu	37	17	39919526	39919526	+	Silent	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:39919526C>A	uc002hxq.2	-	8	1483	c.1206G>T	c.(1204-1206)GTG>GTT	p.V402V	JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Silent_p.V402V|JUP_uc002hxs.2_Silent_p.V402V	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	402	ARM 5.				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGACGTCATCCACACTCAGCT	0.587												
STAT5B	6777	broad.mit.edu	37	17	40375517	40375517	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:40375517T>C	uc002hzh.2	-	5	602	c.433A>G	c.(433-435)AAC>GAC	p.N145D	STAT5B_uc002hzi.3_Missense_Mutation_p.N145D	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	145					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AACGTCTGGTTGATCTGGAGG	0.537												
NAGLU	4669	broad.mit.edu	37	17	40690692	40690692	+	Missense_Mutation	SNP	G	G	A	rs146456266	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:40690692G>A	uc002hzv.2	+	4	1023	c.683G>A	c.(682-684)CGG>CAG	p.R228Q		NM_000263	NP_000254	P54802	ANAG_HUMAN	alpha-N-acetylglucosaminidase precursor	228						lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTCCAGCACCGGGTCCTGGAC	0.632												
MLX	6945	broad.mit.edu	37	17	40723569	40723569	+	Missense_Mutation	SNP	T	T	C	rs140676383		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:40723569T>C	uc002iag.2	+	8	910	c.845T>C	c.(844-846)CTG>CCG	p.L282P	MLX_uc002iaf.2_Missense_Mutation_p.L228P|MLX_uc002iah.2_Missense_Mutation_p.L198P	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	transcription factor-like protein 4 isoform	282					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CGCCAGACCCTGCGGGAGATT	0.493												
PLEKHM1	9842	broad.mit.edu	37	17	43516967	43516967	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:43516967C>T	uc002ija.2	-	11	3105	c.2935G>A	c.(2935-2937)GCC>ACC	p.A979T	PLEKHM1_uc010wjm.1_Missense_Mutation_p.A951T|PLEKHM1_uc002ijb.2_Missense_Mutation_p.A454T	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	979					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					TCAATCAGGGCCTTGAGGAAT	0.572												
XYLT2	64132	broad.mit.edu	37	17	48437638	48437638	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:48437638G>A	uc002iqo.2	+	11	2693	c.2584G>A	c.(2584-2586)GGG>AGG	p.G862R	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	862	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					CAAAGCAGACGGGCGACTCAG	0.652												
MYCBPAP	84073	broad.mit.edu	37	17	48598498	48598498	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:48598498A>G	uc010wmr.1	+	8	1235	c.1073A>G	c.(1072-1074)TAC>TGC	p.Y358C	MYCBPAP_uc002iqx.2_Missense_Mutation_p.Y358C|MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	321					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GACGCTTCATACCGCTACACC	0.567												
WFIKKN2	124857	broad.mit.edu	37	17	48913367	48913367	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:48913367G>A	uc002isv.3	+	1	763	c.69G>A	c.(67-69)CTG>CTA	p.L23L	WFIKKN2_uc010dbu.2_Intron	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	23						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgctgctgctgctactgctCG	0.612												
DGKE	8526	broad.mit.edu	37	17	54939267	54939267	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:54939267A>G	uc002iur.2	+	10	1580	c.1400A>G	c.(1399-1401)TAC>TGC	p.Y467C	DGKE_uc002ius.1_Missense_Mutation_p.Y467C	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	467					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)					GACGAGACTTACCCTCTAGCC	0.423												
TRIM25	7706	broad.mit.edu	37	17	54969487	54969487	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:54969487C>T	uc002iut.2	-	9	1527	c.1467G>A	c.(1465-1467)CGG>CGA	p.R489R	TRIM25_uc010dcj.2_Silent_p.R281R	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	489	B30.2/SPRY.				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)					GGGGATGCGGCCGGTAGTTCT	0.532												
EPX	8288	broad.mit.edu	37	17	56276417	56276417	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:56276417G>A	uc002ivq.2	+	8	1223	c.1137G>A	c.(1135-1137)ACG>ACA	p.T379T		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	379					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						CCCGATCAACGGAAACCCCCA	0.567												
BZRAP1	9256	broad.mit.edu	37	17	56385063	56385063	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:56385063A>G	uc002ivx.3	-	24	5763	c.4892T>C	c.(4891-4893)GTG>GCG	p.V1631A	BZRAP1_uc002ivv.2_5'Flank|BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.V1571A|BZRAP1_uc010wnt.1_Missense_Mutation_p.V1631A	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1631	SH3 2.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAACAGAGCCACAAAGATCCT	0.567												
MRC2	9902	broad.mit.edu	37	17	60743600	60743600	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:60743600C>T	uc002jad.2	+	3	1068	c.666C>T	c.(664-666)GAC>GAT	p.D222D	MRC2_uc002jac.2_Silent_p.D222D	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	222	Extracellular (Potential).|Fibronectin type-II.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACGGCAAAGACGAGCGCTGGG	0.657												
TANC2	26115	broad.mit.edu	37	17	61498207	61498207	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:61498207G>A	uc002jal.3	+	25	4887	c.4864G>A	c.(4864-4866)GTC>ATC	p.V1622I	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.V733I	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1622							binding			ovary(2)	2						CAGCCCAGCCGTCCATTCAAG	0.567												
MAP3K3	4215	broad.mit.edu	37	17	61744414	61744414	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:61744414T>C	uc002jbg.2	+	6	815	c.496T>C	c.(496-498)TCT>CCT	p.S166P	MAP3K3_uc002jbe.2_Missense_Mutation_p.S197P|MAP3K3_uc002jbf.2_Missense_Mutation_p.S197P|MAP3K3_uc002jbh.2_Missense_Mutation_p.S197P|MAP3K3_uc010wpo.1_Missense_Mutation_p.S81P|MAP3K3_uc010wpp.1_Missense_Mutation_p.S166P	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	166					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						CAGGCACCTCTCTGTCAGTGA	0.448												
RGS9	8787	broad.mit.edu	37	17	63156438	63156438	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:63156438G>A	uc002jfe.2	+	4	403	c.293G>A	c.(292-294)GGC>GAC	p.G98D	RGS9_uc010dem.2_Missense_Mutation_p.G98D|RGS9_uc002jfd.2_Missense_Mutation_p.G98D|RGS9_uc002jff.2_RNA	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	98	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						AAGCCTGATGGCAGCCTCTAC	0.473												
BPTF	2186	broad.mit.edu	37	17	65940481	65940481	+	Silent	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:65940481A>C	uc002jgf.2	+	20	6754	c.6693A>C	c.(6691-6693)ACA>ACC	p.T2231T	BPTF_uc002jge.2_Silent_p.T2357T|BPTF_uc002jgg.2_Silent_p.T31T	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2357	Thr-rich.				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)			TTTCCACGACAGCAGCAGGTA	0.512												
SDK2	54549	broad.mit.edu	37	17	71426743	71426743	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:71426743C>T	uc010dfm.2	-	12	1490	c.1490G>A	c.(1489-1491)CGC>CAC	p.R497H	SDK2_uc010dfn.2_Missense_Mutation_p.R176H	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	497	Extracellular (Potential).|Ig-like C2-type 6.				cell adhesion	integral to membrane				ovary(2)	2						CTTGGTGATGCGGGTCCGAGC	0.592												
TTYH2	94015	broad.mit.edu	37	17	72245498	72245498	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:72245498A>G	uc002jkc.2	+	8	921	c.890A>G	c.(889-891)TAC>TGC	p.Y297C	TTYH2_uc010wqw.1_Missense_Mutation_p.Y276C|TTYH2_uc002jkd.2_5'UTR	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	297	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						ACTCGCTACTACCTGTATTGC	0.602												
GPR142	350383	broad.mit.edu	37	17	72368072	72368072	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:72368072C>T	uc010wqy.1	+	4	722	c.722C>T	c.(721-723)GCC>GTC	p.A241V	GPR142_uc010wqx.1_Missense_Mutation_p.A153V	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	241	Helical; Name=3; (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GAGTTTGCTGCCAACCACGCC	0.682												
CD300A	11314	broad.mit.edu	37	17	72470778	72470778	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:72470778C>A	uc002jkv.2	+	3	808	c.487C>A	c.(487-489)CAC>AAC	p.H163N	CD300A_uc002jkw.2_Missense_Mutation_p.H50N|CD300A_uc010dfr.2_Missense_Mutation_p.H50N|CD300A_uc010dfs.2_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	leukocyte membrane antigen	163	Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2						GGGTGCCACCCACAGTGCCAG	0.552												
NUP85	79902	broad.mit.edu	37	17	73229063	73229063	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:73229063G>A	uc002jng.1	+	15	1774	c.1514G>A	c.(1513-1515)AGG>AAG	p.R505K	NUP85_uc010dgd.1_Missense_Mutation_p.R460K|NUP85_uc010wrv.1_Missense_Mutation_p.R459K|NUP85_uc002jnh.1_Missense_Mutation_p.R108K	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	505					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GTGTCAGACAGGTGGGTGCCG	0.617												
ITGB4	3691	broad.mit.edu	37	17	73753308	73753308	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:73753308C>G	uc002jpg.2	+	39	5433	c.5246C>G	c.(5245-5247)GCC>GGC	p.A1749G	ITGB4_uc002jph.2_Missense_Mutation_p.A1679G|ITGB4_uc002jpi.3_Missense_Mutation_p.A1679G|ITGB4_uc002jpj.2_Missense_Mutation_p.A1732G|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1749	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)			GGCAGCCGTGCCGGGCTCTTC	0.672												
RNF157	114804	broad.mit.edu	37	17	74151699	74151699	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:74151699C>T	uc002jqz.2	-	15	1711	c.1642G>A	c.(1642-1644)GGA>AGA	p.G548R	RNF157_uc002jra.2_Missense_Mutation_p.G548R|uc002jrb.1_5'Flank	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	548							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			AGAGCCTCTCCCTCCTCTTCA	0.607												
C1QTNF1	114897	broad.mit.edu	37	17	77040120	77040120	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:77040120C>A	uc002jwp.2	+	2	410	c.70C>A	c.(70-72)CTG>ATG	p.L24M	C1QTNF1_uc002jwq.2_Intron|C1QTNF1_uc002jwr.3_Missense_Mutation_p.L34M|C1QTNF1_uc002jws.2_Missense_Mutation_p.L24M|C1QTNF1_uc002jwt.2_Missense_Mutation_p.L122M	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	24						collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TGGCCTGGTCCTGAGTCGTGT	0.657												
CCDC40	55036	broad.mit.edu	37	17	78011966	78011966	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:78011966G>A	uc010dht.2	+	2	101	c.74G>A	c.(73-75)GGG>GAG	p.G25E	TBC1D16_uc002jxj.2_5'Flank|CCDC40_uc010wub.1_Missense_Mutation_p.G25E	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	25					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGAAGGAAGGGAATAATGAA	0.378												
RNF213	57674	broad.mit.edu	37	17	78363029	78363029	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:78363029C>T	uc002jyh.1	+	40	9499	c.9276C>T	c.(9274-9276)AGC>AGT	p.S3092S	uc002jyi.1_Intron|RNF213_uc010dhx.1_Silent_p.S36S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment								p.S3092N(1)		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)			AGTCCTACAGCGATGCCTGTG	0.532												
RPTOR	57521	broad.mit.edu	37	17	78865595	78865595	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:78865595G>T	uc002jyt.1	+	18	2864	c.2059G>T	c.(2059-2061)GAA>TAA	p.E687*	RPTOR_uc010wug.1_Nonsense_Mutation_p.E529*	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	687					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						GCAGTTCATAGAAGAGGAAAA	0.547												
ZNF750	79755	broad.mit.edu	37	17	80788060	80788060	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:80788060C>T	uc002kga.2	-	3	2441	c.2130G>A	c.(2128-2130)ACG>ACA	p.T710T	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	710						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACACTCTGGCCGTGTCCTGCA	0.572												
MYOM1	8736	broad.mit.edu	37	18	3135622	3135622	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:3135622C>T	uc002klp.2	-	15	2466	c.2132G>A	c.(2131-2133)CGT>CAT	p.R711H	MYOM1_uc002klq.2_Missense_Mutation_p.R711H	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	711	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						ACAGCGGACACGGAAACAGTA	0.522												
EPB41L3	23136	broad.mit.edu	37	18	5397403	5397403	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:5397403G>A	uc002kmt.1	-	18	2581	c.2495C>T	c.(2494-2496)TCC>TTC	p.S832F	EPB41L3_uc010wzh.1_Missense_Mutation_p.S663F|EPB41L3_uc002kmu.1_Missense_Mutation_p.S610F|EPB41L3_uc010dkq.1_Missense_Mutation_p.S501F|EPB41L3_uc002kms.1_Missense_Mutation_p.S67F|EPB41L3_uc010wze.1_Missense_Mutation_p.S137F|EPB41L3_uc010wzf.1_Missense_Mutation_p.S129F|EPB41L3_uc010wzg.1_Missense_Mutation_p.S104F|EPB41L3_uc010dkr.2_Missense_Mutation_p.S224F	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	832	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						TATTCCACTGGACTCCGTCTT	0.537												
LAMA1	284217	broad.mit.edu	37	18	6997771	6997771	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:6997771T>C	uc002knm.2	-	33	4870	c.4776A>G	c.(4774-4776)TCA>TCG	p.S1592S	LAMA1_uc010wzj.1_Silent_p.S1068S	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1592	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTCCAGGTTTGACAAAATTC	0.418												
CIDEA	1149	broad.mit.edu	37	18	12274251	12274251	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:12274251A>C	uc002kqt.3	+	4	555	c.490A>C	c.(490-492)ACG>CCG	p.T164P	CIDEA_uc002kqu.3_Missense_Mutation_p.T198P|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	164					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2						CATCCGGTGCACGGGACTCAA	0.592												
FAM59A	64762	broad.mit.edu	37	18	29890192	29890192	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:29890192G>A	uc002kxl.2	-	3	413	c.357C>T	c.(355-357)CGC>CGT	p.R119R	FAM59A_uc002kxk.1_Silent_p.R119R	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	119	CABIT.									ovary(1)|skin(1)	2						TGACGTACACGCGTTCAGGAA	0.413												
ASXL3	80816	broad.mit.edu	37	18	31326030	31326030	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:31326030C>T	uc010dmg.1	+	12	6273	c.6218C>T	c.(6217-6219)ACG>ATG	p.T2073M	ASXL3_uc002kxq.2_Missense_Mutation_p.T1780M	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2073					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CCACAGTCCACGGGCATATGT	0.398												
INO80C	125476	broad.mit.edu	37	18	33077704	33077704	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:33077704C>T	uc002kyy.3	-	1	252	c.135G>A	c.(133-135)GCG>GCA	p.A45A	INO80C_uc002kyw.1_Silent_p.A45A|INO80C_uc002kyx.3_5'Flank|INO80C_uc010dmt.2_Silent_p.A45A	NM_194281	NP_919257	Q6PI98	IN80C_HUMAN	Ies6-similar protein isoform 2	45					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex					0						TGGAAGCGGACGCTTTTTTCT	0.672												
KIAA1632	57724	broad.mit.edu	37	18	43440128	43440128	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:43440128G>A	uc002lbm.2	-	40	7050	c.6950C>T	c.(6949-6951)GCG>GTG	p.A2317V	KIAA1632_uc010xcq.1_Missense_Mutation_p.A871V|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.A1192V	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2317					autophagy						0						GCGGACGGACGCCAGGCTCTG	0.532												
C18orf25	147339	broad.mit.edu	37	18	43795862	43795862	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:43795862G>A	uc002lbw.2	+	2	395	c.16G>A	c.(16-18)GCA>ACA	p.A6T	C18orf25_uc002lbx.2_Missense_Mutation_p.A6T	NM_145055	NP_659492	Q96B23	CR025_HUMAN	ARKadia-like 1 isoform a	6										central_nervous_system(2)	2						GATGGAGGAGGCAGTGGGAAA	0.418												
ACAA2	10449	broad.mit.edu	37	18	47323922	47323922	+	Missense_Mutation	SNP	G	G	A	rs145076043		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:47323922G>A	uc002ldw.3	-	3	623	c.226C>T	c.(226-228)CGT>TGT	p.R76C	ACAA2_uc002ldx.3_Missense_Mutation_p.R73C	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	76					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1						ATTCCCACACGCAAACCAACA	0.388												
CDH7	1005	broad.mit.edu	37	18	63477150	63477150	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:63477150A>G	uc002ljz.2	+	3	746	c.421A>G	c.(421-423)ATC>GTC	p.I141V	CDH7_uc002lka.2_Missense_Mutation_p.I141V|CDH7_uc002lkb.2_Missense_Mutation_p.I141V	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	141	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				GGAGTTTGTCATCAAAATTCA	0.512												
CBLN2	147381	broad.mit.edu	37	18	70209217	70209217	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:70209217A>G	uc002lku.2	-	2	414	c.179T>C	c.(178-180)CTG>CCG	p.L60P	CBLN2_uc002lkv.2_Missense_Mutation_p.L60P	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	60						integral to membrane					0		Esophageal squamous(42;0.131)				CTTGCCCTCCAGCACGATGGG	0.706												
NETO1	81832	broad.mit.edu	37	18	70461450	70461450	+	Nonsense_Mutation	SNP	C	C	A	rs138679154		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:70461450C>A	uc002lkw.2	-	6	825	c.541G>T	c.(541-543)GGA>TGA	p.G181*	NETO1_uc002lkx.1_Nonsense_Mutation_p.G180*|NETO1_uc002lky.1_Nonsense_Mutation_p.G181*	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	181	CUB 2.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.G181R(1)		ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCCACAATTCCTTCGGAACCG	0.428												
ZNF407	55628	broad.mit.edu	37	18	72346733	72346733	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:72346733C>T	uc002llw.2	+	1	3815	c.3758C>T	c.(3757-3759)ACG>ATG	p.T1253M	ZNF407_uc010xfc.1_Missense_Mutation_p.T1253M|ZNF407_uc010dqu.1_Missense_Mutation_p.T1253M|ZNF407_uc002llu.2_Missense_Mutation_p.T1252M	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGCCCTGTGACGCTCGATGGG	0.572												
NFATC1	4772	broad.mit.edu	37	18	77170705	77170705	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr18:77170705G>A	uc010xfg.1	+	2	883	c.430G>A	c.(430-432)GTC>ATC	p.V144I	NFATC1_uc002lnc.1_Missense_Mutation_p.V144I|NFATC1_uc010xff.1_Missense_Mutation_p.V144I|NFATC1_uc002lnd.2_Missense_Mutation_p.V144I|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.V144I|NFATC1_uc010xfi.1_Missense_Mutation_p.V131I|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.V131I|NFATC1_uc002lng.2_Missense_Mutation_p.V131I|NFATC1_uc010xfk.1_Missense_Mutation_p.V131I	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	144	Trans-activation domain A (TAD-A).				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)		GGTGGAAGACGTCCTCCCTAG	0.627												
MED16	10025	broad.mit.edu	37	19	877145	877145	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:877145G>A	uc002lqd.1	-	9	1540	c.1389C>T	c.(1387-1389)CAC>CAT	p.H463H	MED16_uc010drw.1_Silent_p.H288H|MED16_uc002lqe.2_Silent_p.H452H|MED16_uc002lqf.2_Silent_p.H452H|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Silent_p.H308H|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	463					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCAGCGGGTGGCCCATGG	0.672												
C19orf6	91304	broad.mit.edu	37	19	1014301	1014301	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:1014301C>T	uc002lqr.1	-	2	543	c.397G>A	c.(397-399)GGC>AGC	p.G133S	C19orf6_uc002lqq.1_5'Flank|C19orf6_uc002lqs.1_Missense_Mutation_p.G133S	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	membralin isoform 1	133						cytoplasm|integral to membrane				pancreas(2)|breast(1)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGCGGCCGCCGCTGTCA	0.637												
ADAT3	113179	broad.mit.edu	37	19	1912976	1912976	+	Silent	SNP	C	C	T	rs150936899		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:1912976C>T	uc002luh.2	+	2	1110	c.882C>T	c.(880-882)TGC>TGT	p.C294C	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.2_Intron|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Intron	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	tRNA-specific adenosine deaminase 3	294		Zinc (By similarity).			tRNA processing		hydrolase activity|zinc ion binding			breast(1)|skin(1)	2		Ovarian(11;2.11e-07)|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)		GCGCCATGTGCGCCATGGCCC	0.716												
TMPRSS9	360200	broad.mit.edu	37	19	2408410	2408410	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:2408410C>T	uc010xgx.1	+	7	797	c.797C>T	c.(796-798)TCG>TTG	p.S266L	TMPRSS9_uc002lvv.1_Missense_Mutation_p.S300L	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	266	Extracellular (Potential).|Peptidase S1 1.				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)		CTCAGCGGCTCGGAGGCCAGC	0.637												
LMNB2	84823	broad.mit.edu	37	19	2433834	2433834	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:2433834T>C	uc002lvy.2	-	8	1499	c.1412A>G	c.(1411-1413)AAC>AGC	p.N471S	LMNB2_uc002lwa.1_Missense_Mutation_p.N491S	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	471	Tail.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		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)		CTTGTCCGAGTTGTTCTTGAG	0.657												
PIP5K1C	23396	broad.mit.edu	37	19	3646034	3646034	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:3646034G>T	uc002lyj.1	-	11	1340	c.1283C>A	c.(1282-1284)CCC>CAC	p.P428H	PIP5K1C_uc010xhq.1_Missense_Mutation_p.P428H|PIP5K1C_uc010xhr.1_Missense_Mutation_p.P428H	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	428	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ATAGAAGCTGGGGCGGTGGAC	0.622												
FSD1	79187	broad.mit.edu	37	19	4323414	4323414	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:4323414C>T	uc002lzy.2	+	12	1514	c.1361C>T	c.(1360-1362)CCG>CTG	p.P454L	FSD1_uc002lzz.2_Missense_Mutation_p.R424C|FSD1_uc002maa.2_Missense_Mutation_p.P267L	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing	454	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCACACAGCCGCTGCTGCCT	0.657												
UHRF1	29128	broad.mit.edu	37	19	4929423	4929423	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:4929423G>A	uc002mbo.2	+	3	511	c.343G>A	c.(343-345)GCC>ACC	p.A115T	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.A128T	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	115					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)		TGAGGCGGCCGCCGAGACTGA	0.652												
SAFB2	9667	broad.mit.edu	37	19	5590402	5590402	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:5590402G>A	uc002mcd.2	-	18	2624	c.2412C>T	c.(2410-2412)CGC>CGT	p.R804R		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	804	Interacts with SAFB1.|Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CGTGGCCATGGCGGTCATCTC	0.667												
FBN3	84467	broad.mit.edu	37	19	8137014	8137014	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:8137014G>A	uc002mjf.2	-	62	8027	c.8006C>T	c.(8005-8007)TCG>TTG	p.S2669L	FBN3_uc002mje.2_Missense_Mutation_p.S465L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2669						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GGCTTCAGACGAGAGCAGCTC	0.657												
RAB11B	9230	broad.mit.edu	37	19	8464825	8464825	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:8464825G>T	uc002mju.3	+	2	215	c.119G>T	c.(118-120)AGC>ATC	p.S40I	RAB11B_uc010xkd.1_Missense_Mutation_p.S40I	NM_004218	NP_004209	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	40	Effector region (By similarity).				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity				0						AACCTGGAGAGCAAGAGCACC	0.642												
HNRNPM	4670	broad.mit.edu	37	19	8548060	8548060	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:8548060T>C	uc010dwe.2	+	13	1219	c.1139T>C	c.(1138-1140)CTG>CCG	p.L380P	HNRNPM_uc010xke.1_Missense_Mutation_p.L326P|HNRNPM_uc010dwd.2_Missense_Mutation_p.L341P|HNRNPM_uc002mka.2_Missense_Mutation_p.L245P	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	380					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						AGTAATGCACTGAAGAGAGGA	0.378												
OR7E24	26648	broad.mit.edu	37	19	9362135	9362135	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:9362135A>T	uc002mlb.1	+	1	416	c.416A>T	c.(415-417)GAC>GTC	p.D139V		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ATGGCCTATGACCGGTTTGTG	0.458												
DNM2	1785	broad.mit.edu	37	19	10893787	10893787	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:10893787G>A	uc002mps.1	+	6	1004	c.840G>A	c.(838-840)ACG>ACA	p.T280T	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.T280T|DNM2_uc002mpv.1_Silent_p.T280T|DNM2_uc002mpu.1_Silent_p.T280T|DNM2_uc010dxl.1_Silent_p.T280T|DNM2_uc002mpw.2_Silent_p.T13T	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	280					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGCAGAAGACGCTGAATCAGG	0.577												
ZNF442	79973	broad.mit.edu	37	19	12461464	12461464	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:12461464T>C	uc002mtr.1	-	6	1546	c.935A>G	c.(934-936)GAA>GGA	p.E312G	ZNF442_uc010xmk.1_Missense_Mutation_p.E243G	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	312	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						GTGAGTTCTTTCATGTATTCG	0.418												
TNPO2	30000	broad.mit.edu	37	19	12826220	12826220	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:12826220G>A	uc002muo.2	-	6	750	c.565C>T	c.(565-567)CGG>TGG	p.R189W	TNPO2_uc002mup.2_Missense_Mutation_p.R281W|TNPO2_uc002muq.2_Missense_Mutation_p.R189W|TNPO2_uc002mur.2_Missense_Mutation_p.R189W	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	189	HEAT 2.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						TGCACCCACCGGATCTTGGGA	0.627												
RAD23A	5886	broad.mit.edu	37	19	13060124	13060124	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:13060124C>T	uc002mvw.1	+	7	824	c.715C>T	c.(715-717)CCC>TCC	p.P239S	RAD23A_uc002mvx.1_Missense_Mutation_p.P238S|RAD23A_uc002mvz.1_Missense_Mutation_p.P238S|RAD23A_uc002mwa.1_Missense_Mutation_p.P239S|RAD23A_uc002mvy.1_Missense_Mutation_p.P73S|RAD23A_uc010xmw.1_Missense_Mutation_p.P74S	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	239					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)	1						GCGGGACCAGCCCCAGTTCCA	0.637								NER				
LPHN1	22859	broad.mit.edu	37	19	14272389	14272389	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:14272389C>T	uc010xnn.1	-	7	1556	c.1260G>A	c.(1258-1260)ACG>ACA	p.T420T	LPHN1_uc010xno.1_Silent_p.T415T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	420	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						TGGTGAGGGGCGTGGGCCTGG	0.697												
CYP4F3	4051	broad.mit.edu	37	19	15760769	15760769	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:15760769G>A	uc002nbj.2	+	7	744	c.694G>A	c.(694-696)GTG>ATG	p.V232M	CYP4F3_uc010xok.1_Missense_Mutation_p.V232M|CYP4F3_uc010xol.1_Missense_Mutation_p.V232M|CYP4F3_uc010xom.1_Missense_Mutation_p.V83M|CYP4F3_uc002nbk.2_Missense_Mutation_p.V232M|CYP4F3_uc010xon.1_5'Flank	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	232					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						CAGTGCCCTTGTGACAAAAAG	0.532												
SIN3B	23309	broad.mit.edu	37	19	16977341	16977341	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:16977341A>G	uc002ney.1	+	13	1890	c.1876A>G	c.(1876-1878)AAC>GAC	p.N626D	SIN3B_uc002nez.1_Missense_Mutation_p.N594D|SIN3B_uc010xpi.1_Missense_Mutation_p.N184D	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	626					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						GAGCTTGCTCAACGAGATCGA	0.627												
GTPBP3	84705	broad.mit.edu	37	19	17450368	17450368	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:17450368G>A	uc010eas.2	+	7	999	c.934G>A	c.(934-936)GGG>AGG	p.G312R	GTPBP3_uc010xpo.1_Missense_Mutation_p.G334R|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.G312R|GTPBP3_uc002ngg.3_Missense_Mutation_p.G344R|GTPBP3_uc002ngi.3_5'UTR	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	312					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1						GGAGGGCGTGGGGCCCGTGGA	0.716												
NCAN	1463	broad.mit.edu	37	19	19338930	19338930	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:19338930C>T	uc002nlz.2	+	8	2600	c.2501C>T	c.(2500-2502)ACG>ATG	p.T834M	NCAN_uc010ecc.1_Missense_Mutation_p.T398M	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	834					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			TCCACAGTCACGCCGGCCCCC	0.547												
NCAN	1463	broad.mit.edu	37	19	19339050	19339050	+	Missense_Mutation	SNP	C	C	T	rs148196919		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:19339050C>T	uc002nlz.2	+	8	2720	c.2621C>T	c.(2620-2622)ACG>ATG	p.T874M	NCAN_uc010ecc.1_Missense_Mutation_p.T438M	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	874					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			ACGCCCCTCACGACCCTGGAG	0.587												
HAPLN4	404037	broad.mit.edu	37	19	19371869	19371869	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:19371869G>A	uc002nmb.2	-	3	292	c.237C>T	c.(235-237)CAC>CAT	p.H79H	HAPLN4_uc002nmc.2_Silent_p.H79H	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	79	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			GGACGCCGTCGTGACCGTGGG	0.662												
CILP2	148113	broad.mit.edu	37	19	19656297	19656297	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:19656297C>T	uc002nmv.3	+	8	3028	c.2943C>T	c.(2941-2943)CCC>CCT	p.P981P	CILP2_uc002nmw.3_Silent_p.P987P	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	981						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						TGCGAGACCCCGAGCGTCCGG	0.677												
ATP13A1	57130	broad.mit.edu	37	19	19766902	19766902	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:19766902G>A	uc002nnh.3	-	8	1202	c.1174C>T	c.(1174-1176)CAG>TAG	p.Q392*	ATP13A1_uc002nnf.3_5'Flank|ATP13A1_uc002nng.2_Nonsense_Mutation_p.Q274*	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	392	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						GGGATGTGCTGCACCACCTTG	0.652												
ZNF253	56242	broad.mit.edu	37	19	20002841	20002841	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:20002841G>A	uc002noj.2	+	4	877	c.785G>A	c.(784-786)GGC>GAC	p.G262D	ZNF253_uc002nok.2_Missense_Mutation_p.G186D|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	262	C2H2-type 4.			Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAAGAATGTGGCAAAGCCTTC	0.403												
TSHZ3	57616	broad.mit.edu	37	19	31769867	31769867	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:31769867T>C	uc002nsy.3	-	2	897	c.832A>G	c.(832-834)ATG>GTG	p.M278V		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	278	C2H2-type 2.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					CCACAGTACATGCACTTCAGC	0.512												
ZNF181	339318	broad.mit.edu	37	19	35232234	35232234	+	Silent	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:35232234T>G	uc002nvu.3	+	4	1411	c.948T>G	c.(946-948)ACT>ACG	p.T316T	ZNF181_uc010xsa.1_Silent_p.T315T|ZNF181_uc010xsb.1_Silent_p.T315T|ZNF181_uc010xsc.1_Silent_p.T251T	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	zinc finger protein 181 isoform 1	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GCACTCACACTGGAGAGAAAC	0.383												
ZNF30	90075	broad.mit.edu	37	19	35434229	35434229	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:35434229G>A	uc010edp.1	+	5	737	c.359G>A	c.(358-360)CGT>CAT	p.R120H	ZNF30_uc002nxf.2_Missense_Mutation_p.R39H|ZNF30_uc010edq.1_Missense_Mutation_p.R121H|ZNF30_uc010edr.1_Missense_Mutation_p.R121H	NM_194325	NP_919306	P17039	ZNF30_HUMAN	zinc finger protein 30 isoform b	120	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	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)		CAGAAACCACGTGAATGTCAG	0.383												
GRAMD1A	57655	broad.mit.edu	37	19	35500086	35500086	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:35500086G>A	uc010xse.1	+	2	209	c.72G>A	c.(70-72)CAG>CAA	p.Q24Q	GRAMD1A_uc002nxi.1_Silent_p.Q111Q|GRAMD1A_uc002nxk.2_Silent_p.Q24Q|GRAMD1A_uc002nxl.2_5'UTR|GRAMD1A_uc010xsf.1_Silent_p.Q29Q	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	24						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AACGGCTGCAGCTCCTGCCCC	0.642												
ATP4A	495	broad.mit.edu	37	19	36046105	36046105	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:36046105A>G	uc002oal.1	-	15	2318	c.2289T>C	c.(2287-2289)GAT>GAC	p.D763D	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	763	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CAAAGTTGTCATCCAGCAGGA	0.597												
ATP4A	495	broad.mit.edu	37	19	36050029	36050029	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:36050029G>A	uc002oal.1	-	8	1150	c.1121C>T	c.(1120-1122)GCG>GTG	p.A374V	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	374	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGTCTCCACCGCCTCCAGGTT	0.602												
ZBTB32	27033	broad.mit.edu	37	19	36207582	36207582	+	Silent	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:36207582C>A	uc002oay.2	+	6	1602	c.1392C>A	c.(1390-1392)ACC>ACA	p.T464T	ZBTB32_uc002oaz.2_RNA|MLL4_uc010eei.2_5'Flank	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	464					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCGCTCCACCTTCCTCTACT	0.672											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CLIP3	25999	broad.mit.edu	37	19	36510151	36510151	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:36510151C>T	uc010eeq.1	-	7	1258	c.976G>A	c.(976-978)GTG>ATG	p.V326M	uc002ocy.2_Missense_Mutation_p.R22C|CLIP3_uc002ocz.1_Missense_Mutation_p.V326M	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	326	CAP-Gly 1.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCAGCTCCACGCCCACCCAC	0.637												
ZNF571	51276	broad.mit.edu	37	19	38057129	38057129	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:38057129T>C	uc002ogt.2	-	4	302	c.201A>G	c.(199-201)TCA>TCG	p.S67S	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Silent_p.S67S	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCACTGGAGTGATTCCATTT	0.388												
PAF1	54623	broad.mit.edu	37	19	39880926	39880926	+	Silent	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:39880926G>T	uc002old.2	-	2	226	c.51C>A	c.(49-51)CCC>CCA	p.P17P	PAF1_uc002ole.1_Intron|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	17					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GGTGGGAATTGGGCCTAGTGG	0.592												
FBL	2091	broad.mit.edu	37	19	40328363	40328363	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:40328363G>T	uc002omn.2	-	6	784	c.670C>A	c.(670-672)CGC>AGC	p.R224S	FBL_uc002omm.1_Missense_Mutation_p.R138S|FBL_uc002omo.2_Missense_Mutation_p.R223S	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	224					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		ATGAGCATGCGGTATTTGTGT	0.587												
ATP1A3	478	broad.mit.edu	37	19	42489310	42489310	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:42489310C>T	uc002osg.2	-	8	907	c.753G>A	c.(751-753)ACG>ACA	p.T251T	ATP1A3_uc010xwf.1_Silent_p.T262T|ATP1A3_uc010xwg.1_Silent_p.T221T|ATP1A3_uc010xwh.1_Silent_p.T264T|ATP1A3_uc002osh.2_Silent_p.T251T	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	251	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						TGCGGTCGCCCGTGGCCACCA	0.672												
GRIK5	2901	broad.mit.edu	37	19	42560855	42560855	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:42560855A>G	uc002osj.1	-	7	897	c.862T>C	c.(862-864)TGG>CGG	p.W288R	GRIK5_uc010eib.1_Missense_Mutation_p.W207R	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	288	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TTCTCCCTCCAGGACATGTTG	0.502												
ZNF224	7767	broad.mit.edu	37	19	44610781	44610781	+	Silent	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:44610781C>A	uc002oyh.1	+	6	770	c.468C>A	c.(466-468)TCC>TCA	p.S156S	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	156					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				ATAAACCATCCTTCAGTGATG	0.418												
ZNF224	7767	broad.mit.edu	37	19	44611657	44611657	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:44611657C>T	uc002oyh.1	+	6	1646	c.1344C>T	c.(1342-1344)CGC>CGT	p.R448R	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	448	C2H2-type 10.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				TTCACCAGCGCGTCCATACAG	0.463												
PPM1N	147699	broad.mit.edu	37	19	46002426	46002426	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:46002426G>A	uc002pce.2	+	1	696	c.696G>A	c.(694-696)GCG>GCA	p.A232A	RTN2_uc002pcb.2_5'Flank|RTN2_uc002pcc.2_5'Flank|RTN2_uc002pcd.2_5'Flank|PPM1N_uc002pcf.2_5'Flank	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	protein phosphatase 1B-like	232	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity				0						TGTCGCGAGCGTTGGGCGACT	0.721												
OPA3	80207	broad.mit.edu	37	19	46032599	46032599	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:46032599C>A	uc002pcj.3	-	2	358	c.258G>T	c.(256-258)GAG>GAT	p.E86D		NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform a	86					response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		AGATGATGCCCTCGCCCAGCA	0.627												
SNRPD2	6633	broad.mit.edu	37	19	46190822	46190822	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:46190822C>T	uc002pcw.2	-	3	643	c.346G>A	c.(346-348)GCC>ACC	p.A116T	SNRPD2_uc002pcv.2_Missense_Mutation_p.A106T	NM_004597	NP_004588	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 isoform 1	116					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TACTTGCCGGCGATGAGCGGG	0.532												
FBXO46	23403	broad.mit.edu	37	19	46216383	46216383	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:46216383C>A	uc002pcy.2	-	2	496	c.371G>T	c.(370-372)TGG>TTG	p.W124L	FBXO46_uc002pcz.2_Missense_Mutation_p.W124L	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	124							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		ATCGCTGCCCCAGTGCCCCTT	0.667												
PPP5C	5536	broad.mit.edu	37	19	46891936	46891936	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:46891936G>A	uc002pem.2	+	11	1363	c.1303G>A	c.(1303-1305)GAG>AAG	p.E435K	PPP5C_uc010xya.1_Missense_Mutation_p.E302K|PPP5C_uc002pen.2_Missense_Mutation_p.E413K	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	435	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)		CGAGGGCTACGAGGTGGCTCA	0.582												
PRMT1	3276	broad.mit.edu	37	19	50185181	50185181	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:50185181C>T	uc010enf.1	+	4	249	c.207C>T	c.(205-207)GAC>GAT	p.D69D	PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Silent_p.D45D|PRMT1_uc002ppe.2_Silent_p.D51D|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Silent_p.D16D|PRMT1_uc010yba.1_RNA	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	50						cytoplasm	protein methyltransferase activity			ovary(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;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TGCTGAAGGACGAGGTGCGCA	0.612												
PTOV1	53635	broad.mit.edu	37	19	50360274	50360274	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:50360274C>T	uc002pqf.1	+	6	771	c.601C>T	c.(601-603)CGC>TGC	p.R201C	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.R169C|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	201	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CTGTGAGGTGCGCGTGCTCAT	0.657												
PTOV1	53635	broad.mit.edu	37	19	50363330	50363330	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:50363330G>T	uc002pqf.1	+	11	1299	c.1129G>T	c.(1129-1131)GGC>TGC	p.G377C	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.L321F|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	377	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AATCTTCATTGGCCTCATCCC	0.562												
TBC1D17	79735	broad.mit.edu	37	19	50384662	50384662	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:50384662G>A	uc002pqo.2	+	5	609	c.457G>A	c.(457-459)GCA>ACA	p.A153T	TBC1D17_uc010enn.1_RNA|TBC1D17_uc010ybg.1_Missense_Mutation_p.A120T|TBC1D17_uc002pqp.2_5'UTR|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_5'UTR|TBC1D17_uc002pqs.2_5'Flank	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	153						intracellular	Rab GTPase activator activity				0		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TTCCCTGCCCGCACTGCACTT	0.667												
ZNF473	25888	broad.mit.edu	37	19	50549654	50549654	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:50549654G>A	uc002prn.2	+	5	2191	c.1954G>A	c.(1954-1956)GGA>AGA	p.G652R	ZNF473_uc002prm.2_Missense_Mutation_p.G652R|ZNF473_uc010ybo.1_Missense_Mutation_p.G640R	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	652	C2H2-type 13.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TAACGAATGCGGAAAGACCTT	0.453												
LRRC4B	94030	broad.mit.edu	37	19	51021694	51021694	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:51021694C>T	uc002pss.2	-	3	1413	c.1276G>A	c.(1276-1278)GTC>ATC	p.V426I		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	426	Extracellular (Potential).|Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGCACGGTGACGTTGGTGAAG	0.647												
KLK9	284366	broad.mit.edu	37	19	51506431	51506431	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:51506431C>T	uc002pux.1	-	5	776	c.689G>A	c.(688-690)CGC>CAC	p.R230H	KLK9_uc002puw.1_RNA|KLK9_uc010eol.1_Missense_Mutation_p.R201H|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'UTR|KLK9_uc002puv.1_RNA	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9 precursor	230	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GACTGCGGGGCGCCGGGGTCT	0.627												
C19orf75	284369	broad.mit.edu	37	19	51769106	51769106	+	Missense_Mutation	SNP	C	C	T	rs149546733		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:51769106C>T	uc002pwb.1	+	4	761	c.380C>T	c.(379-381)GCG>GTG	p.A127V	C19orf75_uc010eov.1_RNA|C19orf75_uc010ycw.1_Missense_Mutation_p.A33V	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	hypothetical protein LOC284369	127	Helical; (Potential).					integral to membrane				ovary(1)|pancreas(1)	2						ATTGTAATTGCGCTGCTCTTC	0.418												
NKG7	4818	broad.mit.edu	37	19	51875430	51875430	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:51875430C>T	uc002pwj.2	-	2	460	c.289G>A	c.(289-291)GCA>ACA	p.A97T	NKG7_uc002pwk.2_Missense_Mutation_p.A62T	NM_005601	NP_005592	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	97	Helical; (Potential).					integral to plasma membrane				central_nervous_system(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCAAAGGCTGCGGTGGTTGAG	0.622												
PPP2R1A	5518	broad.mit.edu	37	19	52719794	52719794	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:52719794G>A	uc002pyp.2	+	9	1165	c.1006G>A	c.(1006-1008)GAT>AAT	p.D336N	PPP2R1A_uc010ydk.1_Missense_Mutation_p.D281N|PPP2R1A_uc010epm.1_Missense_Mutation_p.D376N|PPP2R1A_uc002pyq.2_Missense_Mutation_p.D157N	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	336	PP2A subunit B binding.|HEAT 9.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GCTGGTGTCCGATGCCAACCA	0.557			Mis		clear cell ovarian carcinoma							
ZNF320	162967	broad.mit.edu	37	19	53384761	53384761	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:53384761T>G	uc002qag.2	-	4	809	c.618A>C	c.(616-618)AAA>AAC	p.K206N	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.K152N|ZNF320_uc002qai.2_Missense_Mutation_p.K206N	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	206	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		TTCTAGTATGTTTTGCCAGGT	0.363												
ZNF347	84671	broad.mit.edu	37	19	53644779	53644779	+	Silent	SNP	G	G	A	rs77716783	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:53644779G>A	uc002qbb.1	-	5	1371	c.1302C>T	c.(1300-1302)TGC>TGT	p.C434C	ZNF347_uc010eql.1_Silent_p.C435C|ZNF347_uc002qbc.1_Silent_p.C435C	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	434	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		AGGCTTTGCCGCACTCATTAC	0.423												
LENG1	79165	broad.mit.edu	37	19	54660650	54660650	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:54660650G>A	uc002qdm.2	-	3	439	c.426C>T	c.(424-426)CCC>CCT	p.P142P		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	142										ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGCTGGGCCGGGCGGGGGGC	0.642												
RPS9	6203	broad.mit.edu	37	19	54710190	54710190	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:54710190G>T	uc002qdx.2	+	4	323	c.267G>T	c.(265-267)GAG>GAT	p.E89D	RPS9_uc002qdy.2_Intron|RPS9_uc002qdz.2_Missense_Mutation_p.E89D|RPS9_uc002qea.2_Missense_Mutation_p.E89D|RPS9_uc002qeb.2_Missense_Mutation_p.E89D|RPS9_uc002qec.2_RNA|RPS9_uc002qed.1_Missense_Mutation_p.E89D	NM_001013	NP_001004	P46781	RS9_HUMAN	ribosomal protein S9	89					endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity			breast(1)	1	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		TGCTGGATGAGGGCAAGATGA	0.522												
SUV420H2	84787	broad.mit.edu	37	19	55855161	55855161	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:55855161G>A	uc002qkj.3	+	5	748	c.500G>A	c.(499-501)CGC>CAC	p.R167H	SUV420H2_uc002qkl.2_Missense_Mutation_p.R52H	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2	167	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding				0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TACTCAACCCGCAAGCGGAGT	0.632												
ZNF628	89887	broad.mit.edu	37	19	55994109	55994109	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:55994109C>A	uc002qld.2	+	3	2102	c.1537C>A	c.(1537-1539)CTC>ATC	p.L513I	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	513	C2H2-type 12.					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)		CCAGTGCGGCCTCACCTTCAA	0.682												
CCDC106	29903	broad.mit.edu	37	19	56163822	56163822	+	Silent	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:56163822C>A	uc002qlr.2	+	6	1288	c.553C>A	c.(553-555)CGG>AGG	p.R185R	CCDC106_uc002qls.2_Silent_p.R185R|U2AF2_uc002qlt.2_5'Flank|U2AF2_uc002qlu.2_5'Flank	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	185						nucleus					0		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GGTCCTCTGCCGGTACAAGAA	0.652												
NLRP5	126206	broad.mit.edu	37	19	56549538	56549538	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:56549538C>T	uc002qmj.2	+	10	2763	c.2763C>T	c.(2761-2763)TCC>TCT	p.S921S	NLRP5_uc002qmi.2_Silent_p.S902S	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	921						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGAGTCTCCCAGTGCGCCC	0.517												
ZNF787	126208	broad.mit.edu	37	19	56600242	56600242	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:56600242C>T	uc010eth.1	-	3	418	c.299G>A	c.(298-300)GGC>GAC	p.G100D		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	100	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GAAGGTCTTGCCGCAGTCGGC	0.667												
ZSCAN5A	79149	broad.mit.edu	37	19	56733037	56733037	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:56733037T>G	uc002qmq.2	-	5	1564	c.1398A>C	c.(1396-1398)AAA>AAC	p.K466N	ZSCAN5A_uc010ygi.1_Missense_Mutation_p.K349N|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.K466N|ZSCAN5A_uc002qms.1_Missense_Mutation_p.K465N	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	466					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						ATTTGTAGGGTTTCTCTCCGG	0.498												
ZNF667	63934	broad.mit.edu	37	19	56953014	56953014	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:56953014T>G	uc002qnd.2	-	5	1512	c.1350A>C	c.(1348-1350)AAA>AAC	p.K450N	ZNF667_uc010etl.2_Missense_Mutation_p.K232N|ZNF667_uc002qne.2_Missense_Mutation_p.K450N|ZNF667_uc010etm.2_Missense_Mutation_p.K393N	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	450	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGCCGAAAACTTTACTACATT	0.373												
ZNF667	63934	broad.mit.edu	37	19	56953681	56953681	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:56953681A>C	uc002qnd.2	-	5	845	c.683T>G	c.(682-684)CTT>CGT	p.L228R	ZNF667_uc010etl.2_Missense_Mutation_p.L10R|ZNF667_uc002qne.2_Missense_Mutation_p.L228R|ZNF667_uc010etm.2_Missense_Mutation_p.L171R	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CCCACAGTCAAGAATTTCCTT	0.393												
ZNF416	55659	broad.mit.edu	37	19	58083498	58083498	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:58083498T>C	uc002qpf.2	-	4	1945	c.1774A>G	c.(1774-1776)AAC>GAC	p.N592D	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	592					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;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TAAACAATGTTAGATCTTGGG	0.458												
ZNF324	25799	broad.mit.edu	37	19	58983336	58983336	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:58983336C>T	uc002qsw.1	+	4	1571	c.1477C>T	c.(1477-1479)CGC>TGC	p.R493C	ZNF324_uc002qsx.1_Missense_Mutation_p.R270C	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	493	C2H2-type 9.				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;0.0164)|Lung(386;0.179)		CTTCCGTGAGCGCCCGGCCCT	0.697												
PXDN	7837	broad.mit.edu	37	2	1642695	1642695	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:1642695A>C	uc002qxa.2	-	21	4193	c.4129T>G	c.(4129-4131)TCA>GCA	p.S1377A		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1377					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GATGCATCTGAGCGTGTGCTG	0.532												
PXDN	7837	broad.mit.edu	37	2	1647230	1647230	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:1647230C>T	uc002qxa.2	-	19	3926	c.3862G>A	c.(3862-3864)GTG>ATG	p.V1288M		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1288					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACCCTGAACACGTCGCTCTGC	0.637												
PXDN	7837	broad.mit.edu	37	2	1652618	1652618	+	Silent	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:1652618G>T	uc002qxa.2	-	17	2998	c.2934C>A	c.(2932-2934)GCC>GCA	p.A978A		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	978					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTGCTCGTTGGCGCGGTGGT	0.697												
SOX11	6664	broad.mit.edu	37	2	5832927	5832927	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:5832927A>C	uc002qyj.2	+	1	129	c.74A>C	c.(73-75)GAA>GCA	p.E25A		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	25					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GAGGAGGGCGAATTCATGGCT	0.657												
MBOAT2	129642	broad.mit.edu	37	2	9013332	9013332	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:9013332A>G	uc002qzg.1	-	8	922	c.789T>C	c.(787-789)CAT>CAC	p.H263H	MBOAT2_uc010yix.1_Silent_p.H263H	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	O-acyltransferase (membrane bound) domain	263					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAGCTTGAAAATGCTCATCAA	0.418												
KLF11	8462	broad.mit.edu	37	2	10192518	10192518	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:10192518C>T	uc002raf.1	+	4	1585	c.1423C>T	c.(1423-1425)CGC>TGC	p.R475C	KLF11_uc010yjc.1_Missense_Mutation_p.R458C	NM_003597	NP_003588	O14901	KLF11_HUMAN	Kruppel-like factor 11	475	C2H2-type 3.				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GCATGCCCGGCGCCACATGAC	0.607												
KCNF1	3754	broad.mit.edu	37	2	11053586	11053586	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:11053586T>C	uc002rax.2	+	1	1524	c.1034T>C	c.(1033-1035)ATG>ACG	p.M345T		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	345	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGCTACACCATGGAGCAGAGC	0.587												
ROCK2	9475	broad.mit.edu	37	2	11348480	11348480	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:11348480C>T	uc002rbd.1	-	19	2746	c.2297G>A	c.(2296-2298)TGT>TAT	p.C766Y		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	766	Potential.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTGAGGTCACAGTCTAATAG	0.338												
GREB1	9687	broad.mit.edu	37	2	11702638	11702638	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:11702638G>A	uc002rbk.1	+	3	507	c.207G>A	c.(205-207)GGG>GGA	p.G69G	GREB1_uc002rbl.2_Silent_p.G69G|GREB1_uc002rbm.2_5'UTR|GREB1_uc002rbn.1_Silent_p.G69G	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	69						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)		GAGAAGGAGGGCTGGAAACAA	0.587												
GREB1	9687	broad.mit.edu	37	2	11750942	11750942	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:11750942C>T	uc002rbk.1	+	18	3095	c.2795C>T	c.(2794-2796)ACG>ATG	p.T932M	GREB1_uc002rbo.1_Missense_Mutation_p.T566M|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	932						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)		CTGGAGATCACGCAGAACCTC	0.652												
NBAS	51594	broad.mit.edu	37	2	15415645	15415645	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:15415645A>G	uc002rcc.1	-	44	5713	c.5687T>C	c.(5686-5688)GTA>GCA	p.V1896A	NBAS_uc010exl.1_Missense_Mutation_p.V968A|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1896										ovary(2)|liver(1)|skin(1)	4						AACTGCATCTACCACAGTGAT	0.413												
NBAS	51594	broad.mit.edu	37	2	15557796	15557796	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:15557796C>T	uc002rcc.1	-	24	2644	c.2618G>A	c.(2617-2619)CGG>CAG	p.R873Q	NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	873										ovary(2)|liver(1)|skin(1)	4						AGGAATATTCCGCTCCATCCC	0.383												
RAD51AP2	729475	broad.mit.edu	37	2	17699599	17699599	+	Silent	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:17699599G>T	uc002rcl.1	-	1	108	c.84C>A	c.(82-84)TCC>TCA	p.S28S	RAD51AP2_uc010exn.1_Silent_p.S19S	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	28										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAGGTGGTTGGGAATCCGGGT	0.602												
APOB	338	broad.mit.edu	37	2	21231016	21231016	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:21231016G>A	uc002red.2	-	26	8852	c.8724C>T	c.(8722-8724)AAC>AAT	p.N2908N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2908					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTTGATCTCGTTGCGCAGGT	0.468												
DTNB	1838	broad.mit.edu	37	2	25799766	25799766	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:25799766G>A	uc002rgh.2	-	8	1067	c.817C>T	c.(817-819)CGT>TGT	p.R273C	DTNB_uc010yko.1_Missense_Mutation_p.R216C|DTNB_uc010ykp.1_Missense_Mutation_p.R69C|DTNB_uc002rgo.2_Missense_Mutation_p.R94C|DTNB_uc002rgi.2_Missense_Mutation_p.R273C|DTNB_uc002rgj.2_Missense_Mutation_p.R273C|DTNB_uc002rgk.2_Missense_Mutation_p.R273C|DTNB_uc002rgl.2_Missense_Mutation_p.R273C|DTNB_uc002rgq.2_Missense_Mutation_p.R273C|DTNB_uc002rgm.2_Missense_Mutation_p.R273C|DTNB_uc002rgn.2_Missense_Mutation_p.R69C|DTNB_uc002rgr.1_Missense_Mutation_p.R262C|DTNB_uc010ykq.1_Missense_Mutation_p.R126C	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	273	ZZ-type.					cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATGGCCACGCCAAAAGCAA	0.542												
C2orf39	92749	broad.mit.edu	37	2	26677563	26677563	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:26677563C>T	uc002rhg.2	+	15	2042	c.1968C>T	c.(1966-1968)TCC>TCT	p.S656S		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	656											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGACAACTCCAAGGACTCGG	0.572												
NRBP1	29959	broad.mit.edu	37	2	27662650	27662650	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:27662650C>T	uc002rko.2	+	12	1753	c.921C>T	c.(919-921)TGC>TGT	p.C307C	NRBP1_uc002rkq.2_Silent_p.C306C|NRBP1_uc002rkp.2_Silent_p.C307C|NRBP1_uc002rkr.2_Silent_p.C98C|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	307	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					TTCAAAAGTGCCTGCAGTCTG	0.453												
IFT172	26160	broad.mit.edu	37	2	27684328	27684328	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:27684328T>C	uc002rku.2	-	22	2301	c.2250A>G	c.(2248-2250)ACA>ACG	p.T750T		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	750					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CCTCTTGCTGTGTGTCCATCA	0.582												
RBKS	64080	broad.mit.edu	37	2	28004550	28004550	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:28004550T>G	uc002rlo.1	-	8	912	c.901A>C	c.(901-903)AGT>CGT	p.S301R	RBKS_uc010ezi.1_Missense_Mutation_p.S234R	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	ribokinase	301					D-ribose metabolic process		ATP binding|ribokinase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)					GCCTGGACACTGACTGCTGCA	0.448												
C2orf71	388939	broad.mit.edu	37	2	29294952	29294952	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:29294952G>A	uc002rmt.1	-	1	2176	c.2176C>T	c.(2176-2178)CCC>TCC	p.P726S		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	726					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						GTTCTGGTGGGACAGCCTCTG	0.552												
NLRC4	58484	broad.mit.edu	37	2	32475569	32475569	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:32475569A>G	uc002roi.2	-	4	1610	c.1364T>C	c.(1363-1365)CTC>CCC	p.L455P	NLRC4_uc002roj.1_Missense_Mutation_p.L455P|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	455	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAAACTGCTGAGTCTTCGTCC	0.438												
CDC42EP3	10602	broad.mit.edu	37	2	37873630	37873630	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:37873630G>A	uc002rqi.1	-	2	1094	c.101C>T	c.(100-102)CCG>CTG	p.P34L		NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Cdc42 effector protein 3	34	CRIB.				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding				0		all_hematologic(82;0.172)				GTCTCCAAGCGGGGGACTGAT	0.458												
SLC8A1	6546	broad.mit.edu	37	2	40656482	40656482	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:40656482A>G	uc002rrx.2	-	1	963	c.939T>C	c.(937-939)GAT>GAC	p.D313D	SLC8A1_uc002rry.2_Silent_p.D313D|SLC8A1_uc002rrz.2_Silent_p.D313D|SLC8A1_uc002rsa.2_Silent_p.D313D|SLC8A1_uc002rsd.3_Silent_p.D313D|SLC8A1_uc002rsb.1_Silent_p.D313D|SLC8A1_uc010fan.1_Silent_p.D313D|SLC8A1_uc002rsc.1_Silent_p.D313D	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	313	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGTCCCTCTCATCCACCTCCA	0.418												
EML4	27436	broad.mit.edu	37	2	42543190	42543190	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:42543190G>T	uc002rsi.2	+	18	2318	c.2056G>T	c.(2056-2058)GAT>TAT	p.D686Y	EML4_uc010fap.2_Missense_Mutation_p.D628Y|EML4_uc002rsj.2_Missense_Mutation_p.D375Y|EML4_uc010faq.2_Missense_Mutation_p.D31Y|EML4_uc010ynv.1_Intron	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	686	WD 7.				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						CTACTCAATAGGTAGGCAAAT	0.428			T	ALK	NSCLC							
SRBD1	55133	broad.mit.edu	37	2	45807021	45807021	+	Silent	SNP	G	G	A	rs143177963		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:45807021G>A	uc002rus.2	-	7	1141	c.1065C>T	c.(1063-1065)GAC>GAT	p.D355D		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	355					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TACCTTTAACGTCAGGCCTAA	0.388												
SOCS5	9655	broad.mit.edu	37	2	46986749	46986749	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:46986749C>T	uc002rvf.2	+	2	1244	c.1080C>T	c.(1078-1080)CAC>CAT	p.H360H	SOCS5_uc010yoe.1_Silent_p.H329H|SOCS5_uc002rvg.2_Silent_p.H360H	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	360					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGAAAGTCCACACACAGATTG	0.498												
KLRAQ1	129285	broad.mit.edu	37	2	48707064	48707064	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:48707064T>C	uc002rwm.2	+	13	1412	c.1227T>C	c.(1225-1227)AGT>AGC	p.S409S	KLRAQ1_uc002rwj.2_Silent_p.S409S|KLRAQ1_uc002rwl.2_Silent_p.S363S|KLRAQ1_uc002rwk.2_Silent_p.S409S|KLRAQ1_uc010yok.1_Silent_p.S409S	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	409										ovary(1)	1						ATTTCCTAGGTACAGAGCCAG	0.408												
SLC1A4	6509	broad.mit.edu	37	2	65245255	65245255	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:65245255T>C	uc010yqa.1	+	6	1407	c.1085T>C	c.(1084-1086)GTG>GCG	p.V362A	SLC1A4_uc010ypy.1_Missense_Mutation_p.V142A|SLC1A4_uc010ypz.1_Missense_Mutation_p.V64A|SLC1A4_uc010fcv.2_Missense_Mutation_p.V362A|SLC1A4_uc002sdh.2_Missense_Mutation_p.V142A	NM_003038	NP_003029	P43007	SATT_HUMAN	solute carrier family 1, member 4 isoform 1	362					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(1)	1					L-Alanine(DB00160)	AACAATGGTGTGGACAAGAGG	0.532												
SPRED2	200734	broad.mit.edu	37	2	65541010	65541010	+	Silent	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:65541010C>A	uc002sdr.3	-	6	1417	c.882G>T	c.(880-882)CGG>CGT	p.R294R	SPRED2_uc010fcw.2_Silent_p.R291R	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	294					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						GCGACTTGCCCCGGGAGGGCT	0.662												
ASPRV1	151516	broad.mit.edu	37	2	70188248	70188248	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:70188248G>A	uc002sfz.3	-	1	1150	c.573C>T	c.(571-573)AGC>AGT	p.S191S		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1 precursor	191	Extracellular (Potential).				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			ovary(1)	1						CCTTACCCATGCTGTTGGCAA	0.587												
PCYOX1	51449	broad.mit.edu	37	2	70504467	70504467	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:70504467G>A	uc002sgn.3	+	6	1527	c.1461G>A	c.(1459-1461)GGG>GGA	p.G487G	PCYOX1_uc010fdo.2_Silent_p.G410G|PCYOX1_uc010yqu.1_Silent_p.G469G	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1 precursor	487					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			central_nervous_system(1)	1						GCTGGAACGGGCACACAGACA	0.463												
ZNF638	27332	broad.mit.edu	37	2	71607362	71607362	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:71607362T>C	uc002shx.2	+	9	2595	c.2276T>C	c.(2275-2277)GTG>GCG	p.V759A	ZNF638_uc010fec.2_Missense_Mutation_p.V865A|ZNF638_uc010yqw.1_Missense_Mutation_p.V338A|ZNF638_uc002shw.2_Missense_Mutation_p.V759A|ZNF638_uc002shy.2_Missense_Mutation_p.V759A|ZNF638_uc002shz.2_Missense_Mutation_p.V759A|ZNF638_uc002sia.2_Missense_Mutation_p.V759A|ZNF638_uc002sib.1_Missense_Mutation_p.V759A|ZNF638_uc010fed.2_RNA	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	759					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AACAAAGAGGTGAAGAAAAAG	0.264												
POLR1A	25885	broad.mit.edu	37	2	86272846	86272846	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:86272846G>A	uc002sqs.2	-	20	3159	c.2780C>T	c.(2779-2781)CCG>CTG	p.P927L	POLR1A_uc010ytb.1_Missense_Mutation_p.P293L|POLR1A_uc002sqt.1_5'Flank	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	927					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CGCCATCAGCGGGGGTCTCCG	0.552												
ASTL	431705	broad.mit.edu	37	2	96789603	96789603	+	Missense_Mutation	SNP	T	T	C	rs11292169		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:96789603T>C	uc010yui.1	-	9	1282	c.1282A>G	c.(1282-1284)ATG>GTG	p.M428V		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	428					proteolysis		metalloendopeptidase activity|zinc ion binding				0						TCTTCGGACATCCCCTTGAAA	0.582												
TMEM127	55654	broad.mit.edu	37	2	96919847	96919847	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:96919847T>C	uc002svq.2	-	4	673	c.416A>G	c.(415-417)CAG>CGG	p.Q139R	TMEM127_uc002svr.2_Missense_Mutation_p.Q139R	NM_017849	NP_060319	O75204	TM127_HUMAN	transmembrane protein 127	139	Helical; (Potential).				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane					0						GGTGGCACACTGCAGAACTAG	0.522									Pheochromocytoma_(Adrenal)_Familial			
SNRNP200	23020	broad.mit.edu	37	2	96963431	96963431	+	Missense_Mutation	SNP	G	G	A	rs142216052		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:96963431G>A	uc002svu.2	-	10	1233	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C		NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	383						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						CGAGACTGACGCACTCGCTCT	0.483												
ARID5A	10865	broad.mit.edu	37	2	97217888	97217888	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:97217888C>T	uc002swe.2	+	7	1723	c.1623C>T	c.(1621-1623)ACC>ACT	p.T541T	ARID5A_uc010yuq.1_Silent_p.T489T|ARID5A_uc002swf.2_Silent_p.T377T|ARID5A_uc002swg.2_Silent_p.T489T	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	541					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						TCCTGGCCACCGCAGGCCCCT	0.697												
C2orf55	343990	broad.mit.edu	37	2	99448879	99448879	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:99448879C>T	uc002szf.1	-	5	766	c.472G>A	c.(472-474)GAC>AAC	p.D158N		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	158											0						GGCAGCCCGTCGTCCTCAGAG	0.587												
LONRF2	164832	broad.mit.edu	37	2	100916256	100916256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:100916256G>A	uc002tal.3	-	5	1830	c.1190C>T	c.(1189-1191)GCT>GTT	p.A397V	LONRF2_uc010yvs.1_RNA	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	397					proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						CTTTAAGCCAGCGCTGGGTGC	0.448												
FBLN7	129804	broad.mit.edu	37	2	112940466	112940466	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:112940466G>A	uc002tho.1	+	6	1040	c.769G>A	c.(769-771)GGT>AGT	p.G257S	FBLN7_uc002thn.2_Missense_Mutation_p.G257S|FBLN7_uc010fki.1_Missense_Mutation_p.G211S|FBLN7_uc010fkj.1_Intron	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	257	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2						CACCTGCCCCGGTGGATACCG	0.647												
CCDC93	54520	broad.mit.edu	37	2	118766148	118766148	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:118766148T>C	uc002tlj.2	-	2	255	c.129A>G	c.(127-129)AGA>AGG	p.R43R	CCDC93_uc010fld.1_Silent_p.R43R	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	43										large_intestine(1)|ovary(1)	2						AGCCTTTAATTCTTGCCCTGA	0.378												
NCKAP5	344148	broad.mit.edu	37	2	133540357	133540357	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:133540357C>A	uc002ttp.2	-	14	4401	c.4027G>T	c.(4027-4029)GGG>TGG	p.G1343W	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1343							protein binding				0						GAGGGGTGCCCCGAGGGCCTC	0.602												
YSK4	80122	broad.mit.edu	37	2	135744541	135744541	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:135744541G>A	uc002tue.1	-	7	1932	c.1901C>T	c.(1900-1902)CCG>CTG	p.P634L	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P521L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.P362L|YSK4_uc002tui.3_Missense_Mutation_p.P651L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	634							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGGCTCTGTCGGTTGAACAGA	0.383												
ZRANB3	84083	broad.mit.edu	37	2	136029371	136029371	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:136029371G>A	uc002tum.2	-	10	1290	c.1173C>T	c.(1171-1173)CGC>CGT	p.R391R	ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Silent_p.R391R|ZRANB3_uc002tun.1_Silent_p.R331R	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	391	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGATAGCCACGCGAGTGTCAG	0.378												
LRP1B	53353	broad.mit.edu	37	2	141202148	141202148	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:141202148A>G	uc002tvj.1	-	64	11130	c.10158T>C	c.(10156-10158)TCT>TCC	p.S3386S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3386	Extracellular (Potential).|LDL-receptor class A 22.				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)		TGAGTTCATCAGAATTGTCTC	0.383										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141625740	141625740	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:141625740A>G	uc002tvj.1	-	26	5234	c.4262T>C	c.(4261-4263)ATG>ACG	p.M1421T	LRP1B_uc010fnl.1_Missense_Mutation_p.M603T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1421	Extracellular (Potential).|LDL-receptor class B 11.				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)		CCCAGTTTTCATGTCTTTATA	0.403										TSP Lung(27;0.18)		
ZEB2	9839	broad.mit.edu	37	2	145153986	145153986	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:145153986T>C	uc002tvu.2	-	9	3540	c.3060A>G	c.(3058-3060)GAA>GAG	p.E1020E	ZEB2_uc002tvv.2_Silent_p.E1014E|ZEB2_uc010zbm.1_Silent_p.E991E|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	1020	C2H2-type 5.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TACCTGTGTGTTCGTATTTAT	0.408												
NR4A2	4929	broad.mit.edu	37	2	157184520	157184520	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:157184520C>T	uc002tyz.3	-	5	1423	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H	NR4A2_uc002tyx.3_Missense_Mutation_p.R271H|NR4A2_uc010zcf.1_Missense_Mutation_p.R334H|NR4A2_uc010zcg.1_5'UTR	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	334	Nuclear receptor.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						ACTGTCTGTGCGAACCACTGC	0.657												
BAZ2B	29994	broad.mit.edu	37	2	160289669	160289669	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:160289669C>A	uc002uao.2	-	9	1851	c.1499G>T	c.(1498-1500)AGT>ATT	p.S500I	BAZ2B_uc002uap.2_Missense_Mutation_p.S498I|BAZ2B_uc002uas.1_Missense_Mutation_p.S437I|BAZ2B_uc002uaq.1_Missense_Mutation_p.S428I|BAZ2B_uc002uar.1_Missense_Mutation_p.S73I	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TTGAATGACACTTTGAATAAC	0.383												
FIGN	55137	broad.mit.edu	37	2	164467050	164467050	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:164467050C>A	uc002uck.1	-	3	1603	c.1292G>T	c.(1291-1293)GGG>GTG	p.G431V		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	431						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GTGCTCGTCCCCATGCTCACT	0.517												
B3GALT1	8708	broad.mit.edu	37	2	168726164	168726164	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:168726164C>T	uc002udz.1	+	2	966	c.615C>T	c.(613-615)GGC>GGT	p.G205G		NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta	205	Lumenal (Potential).				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4						ATTTTACTGGCTATGTCATTA	0.428												
LRP2	4036	broad.mit.edu	37	2	170104000	170104000	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:170104000T>A	uc002ues.2	-	20	3009	c.2796A>T	c.(2794-2796)AGA>AGT	p.R932S	LRP2_uc010zdf.1_Missense_Mutation_p.R795S	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	932	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)	TGGCACCCAGTCTCCAGTCAG	0.363												
GPR155	151556	broad.mit.edu	37	2	175346317	175346317	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:175346317A>G	uc002uit.2	-	3	759	c.368T>C	c.(367-369)TTG>TCG	p.L123S	GPR155_uc002uiu.2_Missense_Mutation_p.L123S|GPR155_uc002uiv.2_Missense_Mutation_p.L123S|GPR155_uc010fqs.2_Missense_Mutation_p.L123S	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	123	Helical; (Potential).				intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						ACTGGCAACCAATAAGGTTAA	0.353												
OSBPL6	114880	broad.mit.edu	37	2	179247919	179247919	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:179247919A>G	uc002ulx.2	+	17	2168	c.1790A>G	c.(1789-1791)AAC>AGC	p.N597S	OSBPL6_uc002uly.2_Missense_Mutation_p.N622S|OSBPL6_uc010zfe.1_Missense_Mutation_p.N566S|OSBPL6_uc002ulz.2_Missense_Mutation_p.N561S|OSBPL6_uc002uma.2_Missense_Mutation_p.N601S	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	597					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GAGCCGCTCAACACCCTGCAG	0.458												
TTN	7273	broad.mit.edu	37	2	179410360	179410360	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:179410360A>G	uc010zfg.1	-	293	87997	c.87773T>C	c.(87772-87774)ATT>ACT	p.I29258T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I22953T|TTN_uc010zfi.1_Missense_Mutation_p.I22886T|TTN_uc010zfj.1_Missense_Mutation_p.I22761T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30185							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)			TGTCCACTGAATGATGATATG	0.428												
TTN	7273	broad.mit.edu	37	2	179413378	179413378	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:179413378C>A	uc010zfg.1	-	288	85495	c.85271G>T	c.(85270-85272)GGG>GTG	p.G28424V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G22119V|TTN_uc010zfi.1_Missense_Mutation_p.G22052V|TTN_uc010zfj.1_Missense_Mutation_p.G21927V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29351							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)			GGTATATTTCCCTGCATCATT	0.468												
TTN	7273	broad.mit.edu	37	2	179427507	179427507	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:179427507C>T	uc010zfg.1	-	275	75872	c.75648G>A	c.(75646-75648)ACG>ACA	p.T25216T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T18911T|TTN_uc010zfi.1_Silent_p.T18844T|TTN_uc010zfj.1_Silent_p.T18719T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26143							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)			CCCAGGACAACGTCACTGAGT	0.413												
TTN	7273	broad.mit.edu	37	2	179430401	179430401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:179430401G>A	uc010zfg.1	-	275	72978	c.72754C>T	c.(72754-72756)CAG>TAG	p.Q24252*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.Q17947*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q17880*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q17755*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25179							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)			CCTTTGGGCTGCATTTCAACA	0.463												
TTN	7273	broad.mit.edu	37	2	179544699	179544699	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:179544699C>T	uc010zfg.1	-	137	29994	c.29770G>A	c.(29770-29772)GAA>AAA	p.E9924K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6585K|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10851							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)			TCTTCTTCTTCTACAAGATAT	0.403												
CWC22	57703	broad.mit.edu	37	2	180830644	180830644	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:180830644C>T	uc010frh.1	-	12	1576	c.1276G>A	c.(1276-1278)GAG>AAG	p.E426K	CWC22_uc002unp.2_Missense_Mutation_p.E426K	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	426	Poly-Glu.					catalytic step 2 spliceosome	protein binding|RNA binding				0						tcttcttcctcgtcctcttcA	0.229												
PPP1R1C	151242	broad.mit.edu	37	2	182928520	182928520	+	Splice_Site	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:182928520T>C	uc002uoo.2	+	4	528	c.241_splice	c.e4+2	p.G81_splice	PPP1R1C_uc002uon.2_Splice_Site|PPP1R1C_uc002uop.1_Splice_Site_p.G81_splice|PPP1R1C_uc010frm.1_Splice_Site_p.G88_splice|PPP1R1C_uc010frn.1_Splice_Site	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor)						signal transduction	cytoplasm	protein phosphatase inhibitor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			CCATAAAAGGTACTGTTCAGG	0.433												
PDE1A	5136	broad.mit.edu	37	2	183088619	183088619	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:183088619T>C	uc002uos.2	-	8	880	c.796A>G	c.(796-798)ACA>GCA	p.T266A	PDE1A_uc010zfp.1_Missense_Mutation_p.T162A|PDE1A_uc002uoq.1_Missense_Mutation_p.T266A|PDE1A_uc010zfq.1_Missense_Mutation_p.T266A|PDE1A_uc002uor.2_Missense_Mutation_p.T250A|PDE1A_uc002uou.2_Missense_Mutation_p.T232A	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	266	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTGTTTGTTGTCCCTGTATGC	0.328												
MFSD6	54842	broad.mit.edu	37	2	191301681	191301681	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:191301681T>C	uc002urz.2	+	3	1250	c.926T>C	c.(925-927)GTA>GCA	p.V309A		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	309					transmembrane transport	integral to membrane				ovary(2)	2						GTCACAATCGTAGACACGGTC	0.478												
PGAP1	80055	broad.mit.edu	37	2	197729777	197729777	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:197729777G>A	uc002utw.2	-	20	1909	c.1795C>T	c.(1795-1797)CCT>TCT	p.P599S	PGAP1_uc002utx.2_Missense_Mutation_p.P425S|PGAP1_uc002uty.1_Intron	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	599	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4						ACATAAGCAGGAAGAGCTCCA	0.318												
AOX1	316	broad.mit.edu	37	2	201478593	201478593	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:201478593C>T	uc002uvx.2	+	15	1616	c.1515C>T	c.(1513-1515)GGC>GGT	p.G505G	AOX1_uc010zhf.1_Silent_p.G61G|AOX1_uc010fsu.2_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	505					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCCTTTTGGGCTCGGCGCCAG	0.478												
MPP4	58538	broad.mit.edu	37	2	202546262	202546262	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:202546262T>G	uc002uyk.3	-	9	897	c.689A>C	c.(688-690)AAG>ACG	p.K230T	MPP4_uc010ftj.2_Missense_Mutation_p.K230T|MPP4_uc010zhq.1_Missense_Mutation_p.K230T|MPP4_uc010zhr.1_Missense_Mutation_p.K230T|MPP4_uc010zhs.1_Missense_Mutation_p.K186T|MPP4_uc002uyj.3_Missense_Mutation_p.K186T|MPP4_uc010zht.1_Missense_Mutation_p.K203T|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.K230T|MPP4_uc002uym.1_Missense_Mutation_p.K199T|MPP4_uc002uyn.2_Missense_Mutation_p.K186T	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	230	PDZ.					cytoplasm	protein binding				0						TGGAACCACCTTGAACATGAT	0.483												
FZD7	8324	broad.mit.edu	37	2	202900082	202900082	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:202900082C>T	uc002uyw.1	+	1	773	c.712C>T	c.(712-714)CGT>TGT	p.R238C		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	238	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						CGAACCGGGCCGTGCCAACGG	0.672											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NDUFS1	4719	broad.mit.edu	37	2	206991509	206991509	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:206991509T>G	uc002vbe.2	-	17	2071	c.1944A>C	c.(1942-1944)GAA>GAC	p.E648D	NDUFS1_uc010ziq.1_Missense_Mutation_p.E662D|NDUFS1_uc010zir.1_Missense_Mutation_p.E612D|NDUFS1_uc010zis.1_Missense_Mutation_p.E591D|NDUFS1_uc010zit.1_Missense_Mutation_p.E537D|NDUFS1_uc010ziu.1_Missense_Mutation_p.E532D	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	648					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	TAGGAGAGACTTCTTCCAATC	0.398												
CCNYL1	151195	broad.mit.edu	37	2	208618400	208618400	+	Missense_Mutation	SNP	G	G	A	rs34427171		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:208618400G>A	uc002vci.2	+	8	1262	c.905G>A	c.(904-906)CGC>CAC	p.R302H	CCNYL1_uc002vch.2_Missense_Mutation_p.R283H	NM_001142300	NP_001135772	Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1 isoform 1	353					regulation of cyclin-dependent protein kinase activity		protein kinase binding				0				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		GGTATTCAGCGCTCTAAAGCC	0.418												
ATIC	471	broad.mit.edu	37	2	216214270	216214270	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:216214270G>A	uc002vex.3	+	16	1845	c.1671G>A	c.(1669-1671)GCG>GCA	p.A557A	ATIC_uc010zjo.1_Silent_p.A498A|ATIC_uc002vey.3_Silent_p.A556A	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	557					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	p.A557A(1)	ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GTGGTGTGGCGTACATTGCGG	0.468			T	ALK	ALCL							
CYP27A1	1593	broad.mit.edu	37	2	219674400	219674400	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:219674400G>A	uc002viz.3	+	2	790	c.356G>A	c.(355-357)CGG>CAG	p.R119Q		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	119					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CAAGTGATGCGGCAAGAGGGC	0.587												
IHH	3549	broad.mit.edu	37	2	219920330	219920330	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:219920330T>C	uc002vjo.1	-	3	835	c.835A>G	c.(835-837)ACG>GCG	p.T279A		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	279					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTCAGCCGTAAAGAGCAGG	0.662												
WDFY1	57590	broad.mit.edu	37	2	224782711	224782711	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:224782711G>A	uc002vnq.2	-	2	205	c.154C>T	c.(154-156)CTG>TTG	p.L52L		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	52	WD 1.					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			lung(1)	1		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TCTCTTTTCAGCCATACCCGG	0.353												
FAM124B	79843	broad.mit.edu	37	2	225265836	225265836	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:225265836G>T	uc002vnx.2	-	1	876	c.650C>A	c.(649-651)CCT>CAT	p.P217H	FAM124B_uc002vnw.2_Missense_Mutation_p.P217H	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	217							protein binding			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GGGTAGCAGAGGCACTAACTG	0.532												
TRIP12	9320	broad.mit.edu	37	2	230723553	230723553	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:230723553A>G	uc002vpw.1	-	3	945	c.836T>C	c.(835-837)CTT>CCT	p.L279P	TRIP12_uc002vpx.1_Missense_Mutation_p.L321P|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.L279P	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	279					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGACCCTGGAAGAGACAGTTT	0.388												
ALPI	248	broad.mit.edu	37	2	233322527	233322527	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:233322527G>A	uc002vst.3	+	7	883	c.806G>A	c.(805-807)CGC>CAC	p.R269H	ALPI_uc002vsu.3_Missense_Mutation_p.R180H	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	269					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTGTGGAACCGCACTGAGCTC	0.627												
HJURP	55355	broad.mit.edu	37	2	234749594	234749594	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:234749594T>C	uc002vvg.2	-	8	1898	c.1832A>G	c.(1831-1833)AAA>AGA	p.K611R	HJURP_uc010znd.1_Missense_Mutation_p.K550R|HJURP_uc010zne.1_Missense_Mutation_p.K519R	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	611					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CATACTTGCTTTATCTGTAGA	0.403												
GBX2	2637	broad.mit.edu	37	2	237076276	237076276	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:237076276G>A	uc002vvw.1	-	1	377	c.339C>T	c.(337-339)TCC>TCT	p.S113S	GBX2_uc010zng.1_Silent_p.S103S	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	113				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGGGCGACGCGGAGAAGCCGC	0.726												
COPS8	10920	broad.mit.edu	37	2	238002750	238002750	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:238002750G>A	uc002vwh.2	+	5	873	c.349G>A	c.(349-351)GCC>ACC	p.A117T	COPS8_uc010fys.1_RNA|COPS8_uc002vwg.2_Missense_Mutation_p.A68T|COPS8_uc002vwi.2_Missense_Mutation_p.A117T	NM_006710	NP_006701	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8 isoform 1	117	PCI.				cullin deneddylation	cytoplasm|signalosome				ovary(1)	1		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		AAGGAGACGCGCCTTTGCCCT	0.478												
MLPH	79083	broad.mit.edu	37	2	238419298	238419298	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:238419298C>T	uc002vwt.2	+	3	419	c.192C>T	c.(190-192)TGC>TGT	p.C64C	MLPH_uc002vws.2_Silent_p.C64C|MLPH_uc010fyt.1_Silent_p.C64C|MLPH_uc002vwu.2_Silent_p.C64C|MLPH_uc002vwv.2_Silent_p.C64C|MLPH_uc002vww.2_Silent_p.C40C	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	melanophilin isoform 1	64	FYVE-type.|RabBD.						metal ion binding			ovary(1)	1		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGACCCACTGCGCCCGCTGCC	0.562												
OR6B2	389090	broad.mit.edu	37	2	240969039	240969039	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:240969039A>G	uc002vyr.2	-	2	854	c.808T>C	c.(808-810)TCC>CCC	p.S270P	OR6B2_uc010zoc.1_Missense_Mutation_p.S270P	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AGCTTGTTGGAGCTCTGGGAA	0.488												
TBC1D20	128637	broad.mit.edu	37	20	419299	419299	+	Silent	SNP	C	C	T	rs141648576		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:419299C>T	uc002wds.2	-	8	1281	c.1143G>A	c.(1141-1143)GCG>GCA	p.A381A	TBC1D20_uc002wdv.2_Silent_p.A204A|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	381	Helical; (Potential).				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)				CCAGTGCAGCCGCTCCAAGTG	0.532												
ZNF343	79175	broad.mit.edu	37	20	2464827	2464827	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:2464827C>T	uc002wge.1	-	6	1268	c.780G>A	c.(778-780)CCG>CCA	p.P260P	ZNF343_uc010gao.1_Silent_p.P260P|ZNF343_uc002wgd.1_Silent_p.P170P	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	260					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						AGAGGGTCCTCGGGTTTGTAA	0.433												
C20orf27	54976	broad.mit.edu	37	20	3735049	3735049	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:3735049A>G	uc002wji.1	-	5	648	c.419T>C	c.(418-420)GTC>GCC	p.V140A	C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wjh.1_Missense_Mutation_p.V165A	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	hypothetical protein LOC54976	140											0						CTCACCCATGACGCGGGCCTG	0.612												
FERMT1	55612	broad.mit.edu	37	20	6088264	6088264	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:6088264C>T	uc002wmr.2	-	6	1553	c.764G>A	c.(763-765)CGC>CAC	p.R255H	FERMT1_uc010gbt.2_5'UTR|FERMT1_uc002wms.2_Missense_Mutation_p.R255H|FERMT1_uc002wmt.2_5'UTR	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	255	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						CATAAGGGAGCGTGAGGAGTC	0.338												
CST2	1470	broad.mit.edu	37	20	23807170	23807170	+	Missense_Mutation	SNP	C	C	T	rs148004300	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:23807170C>T	uc002wtq.1	-	1	143	c.128G>A	c.(127-129)CGG>CAG	p.R43Q		NM_001322	NP_001313	P09228	CYTT_HUMAN	cystatin SA precursor	43						extracellular region	cysteine-type endopeptidase inhibitor activity				0						ACGCTGTACCCGCTCATCATT	0.592												
DEFB116	245930	broad.mit.edu	37	20	29891233	29891233	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:29891233C>T	uc010ztm.1	-	2	91	c.91G>A	c.(91-93)GGC>AGC	p.G31S		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	beta-defensin 116 precursor	31					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CGGCTCTTGCCATTGTGGGAT	0.463												
TM9SF4	9777	broad.mit.edu	37	20	30733169	30733169	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:30733169G>A	uc002wxj.2	+	8	1061	c.826G>A	c.(826-828)GTC>ATC	p.V276I	TM9SF4_uc010ztr.1_Missense_Mutation_p.V202I|TM9SF4_uc010zts.1_Missense_Mutation_p.V183I|TM9SF4_uc002wxk.2_Missense_Mutation_p.V259I|TM9SF4_uc010gdz.2_Missense_Mutation_p.V183I	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	276						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATGAGTGACGTCCAGATCCA	0.527												
CHMP4B	128866	broad.mit.edu	37	20	32439984	32439984	+	Silent	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:32439984C>A	uc002xaa.2	+	4	741	c.585C>A	c.(583-585)CCC>CCA	p.P195P		NM_176812	NP_789782	Q9H444	CHM4B_HUMAN	chromatin modifying protein 4B	195					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(1)|central_nervous_system(1)	2						CAAATGTTCCCTCTATAGCCC	0.488												
AHCY	191	broad.mit.edu	37	20	32883286	32883286	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:32883286A>C	uc002xai.2	-	2	273	c.134T>G	c.(133-135)CTG>CGG	p.L45R	AHCY_uc002xaj.2_Missense_Mutation_p.L17R|AHCY_uc010get.2_Missense_Mutation_p.L45R	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	45					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						GGCGCCCTTCAGTGGCTTGGA	0.662												
GSS	2937	broad.mit.edu	37	20	33523414	33523414	+	Missense_Mutation	SNP	G	G	A	rs121909308		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:33523414G>A	uc002xbg.2	-	9	879	c.799C>T	c.(799-801)CGG>TGG	p.R267W	GSS_uc010zun.1_Missense_Mutation_p.R139W|GSS_uc010zuo.1_Missense_Mutation_p.R156W|GSS_uc010zup.1_Missense_Mutation_p.R198W|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	267	Substrate binding.		R -> W (in GSS deficiency).		nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TAGCCATCCCGGAAGTAAACC	0.468												
RBM12	10137	broad.mit.edu	37	20	34243085	34243085	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:34243085T>C	uc002xdq.2	-	3	392	c.160A>G	c.(160-162)AGG>GGG	p.R54G	CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.R54G|RBM12_uc002xds.2_Missense_Mutation_p.R54G	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	54						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATACCAAGCCTTGCATCTTCA	0.453											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
MYL9	10398	broad.mit.edu	37	20	35176475	35176475	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:35176475C>T	uc002xfl.1	+	3	319	c.225C>T	c.(223-225)AGC>AGT	p.S75S	uc002xfk.3_Intron|MYL9_uc002xfm.1_Intron	NM_006097	NP_006088	P24844	MYL9_HUMAN	myosin regulatory light chain 9 isoform a	75					axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle				0	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCATGATGAGCGAGGCCCCGG	0.612												
LPIN3	64900	broad.mit.edu	37	20	39980775	39980775	+	Silent	SNP	T	T	C	rs146167352	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:39980775T>C	uc002xjx.2	+	9	1369	c.1278T>C	c.(1276-1278)CAT>CAC	p.H426H	LPIN3_uc010ggh.2_Silent_p.H427H|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	426					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				ACCCTGAACATGAACCTGAAC	0.567												
SEMG2	6407	broad.mit.edu	37	20	43851236	43851236	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:43851236A>C	uc010ggz.2	+	2	1020	c.963A>C	c.(961-963)AAA>AAC	p.K321N	SEMG2_uc002xnk.2_Missense_Mutation_p.K321N|SEMG2_uc002xnl.2_Missense_Mutation_p.K321N	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	321	Repeat-rich region.|4 X 60 AA tandem repeats, type I.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTGAAGAGAAAATACATGGCA	0.378												
MATN4	8785	broad.mit.edu	37	20	43933091	43933091	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:43933091A>G	uc002xnn.2	-	3	607	c.420T>C	c.(418-420)CGT>CGC	p.R140R	MATN4_uc002xno.2_Silent_p.R140R|MATN4_uc002xnp.2_Silent_p.R140R|MATN4_uc010zwr.1_Silent_p.R88R|MATN4_uc002xnr.1_Silent_p.R140R|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	140	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				TGACAGCGACACGCGGCACGC	0.701												
PLTP	5360	broad.mit.edu	37	20	44533614	44533614	+	Silent	SNP	C	C	T	rs61731059	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:44533614C>T	uc002xqn.1	-	9	929	c.849G>A	c.(847-849)GCG>GCA	p.A283A	PLTP_uc002xql.1_Silent_p.A195A|PLTP_uc002xqm.1_Silent_p.A303A|PLTP_uc002xqo.1_Silent_p.A231A|PLTP_uc002xqp.1_Silent_p.A283A|PLTP_uc002xqq.1_Silent_p.A252A|PLTP_uc010zxj.1_Silent_p.A188A|PLTP_uc010ghj.1_Silent_p.A283A	NM_006227	NP_006218	P55058	PLTP_HUMAN	phospholipid transfer protein isoform a	283					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GCAGGGCCCCCGCCCGGAAGT	0.597												
SLC9A8	23315	broad.mit.edu	37	20	48503419	48503419	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:48503419G>A	uc002xuv.1	+	15	1832	c.1622G>A	c.(1621-1623)CGG>CAG	p.R541Q	SLC9A8_uc010zym.1_Missense_Mutation_p.R241Q|SLC9A8_uc010gid.2_Missense_Mutation_p.R165Q	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	541						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTCTTCACTCGGAGGCTGACG	0.647												
PCK1	5105	broad.mit.edu	37	20	56138681	56138681	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:56138681G>A	uc002xyn.3	+	6	1022	c.859G>A	c.(859-861)GCC>ACC	p.A287T	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	287	GTP.				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATTTCCCAGCGCCTGCGGGAA	0.542												
STX16	8675	broad.mit.edu	37	20	57227154	57227154	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:57227154A>G	uc002xzi.2	+	1	827	c.92A>G	c.(91-93)CAC>CGC	p.H31R	STX16_uc010zzq.1_5'UTR|STX16_uc002xzk.2_Intron|STX16_uc002xzm.2_Missense_Mutation_p.H31R|STX16_uc002xzj.2_Intron|STX16_uc002xzl.2_Intron	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	31	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GTGAGTAGTCACATCACCTCC	0.542												
TH1L	51497	broad.mit.edu	37	20	57561169	57561169	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:57561169G>T	uc002yag.2	+	2	136	c.109G>T	c.(109-111)GGA>TGA	p.G37*	TH1L_uc010zzu.1_Nonsense_Mutation_p.G37*|TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Nonsense_Mutation_p.G37*	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	37					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			TTCTGGAGAAGGAGAGGATGA	0.373												
PSMA7	5688	broad.mit.edu	37	20	60714232	60714232	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:60714232G>A	uc002ybx.1	-	4	485	c.370C>T	c.(370-372)CGC>TGC	p.R124C	PSMA7_uc002yby.1_RNA	NM_002792	NP_002783	O14818	PSA7_HUMAN	proteasome alpha 7 subunit	124					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			AACGGCCTGCGCCCATTGCTC	0.502												
BHLHE23	128408	broad.mit.edu	37	20	61637673	61637673	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:61637673G>A	uc002yeb.2	-	1	715	c.406C>T	c.(406-408)CGC>TGC	p.R136C		NM_080606	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix domain containing, class	136	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding				0						GAGAGCTTGCGCACCGACGGG	0.552												
ZGPAT	84619	broad.mit.edu	37	20	62366010	62366010	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:62366010C>T	uc002ygk.2	+	5	1063	c.885C>T	c.(883-885)GAC>GAT	p.D295D	ZGPAT_uc002ygi.2_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Intron|ZGPAT_uc002ygm.2_Intron|ZGPAT_uc002ygn.3_Intron|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	295					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)					TGGGGTCGGACGCCGTGGACT	0.617												
TPTE	7179	broad.mit.edu	37	21	10942730	10942730	+	Silent	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:10942730T>G	uc002yip.1	-	13	1079	c.711A>C	c.(709-711)CTA>CTC	p.L237L	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.L219L|TPTE_uc002yir.1_Silent_p.L199L|TPTE_uc010gkv.1_Silent_p.L99L	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	237	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTGAGGTCTAGGTCAAATC	0.328												
POTED	317754	broad.mit.edu	37	21	14982981	14982981	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:14982981C>A	uc002yjb.1	+	1	484	c.432C>A	c.(430-432)CAC>CAA	p.H144Q		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	pote protein	144						plasma membrane				ovary(3)|skin(3)	6						ACAAGCTCCACAGAGCTGCCT	0.577												
APP	351	broad.mit.edu	37	21	27328060	27328060	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:27328060C>T	uc002ylz.2	-	12	1668	c.1468G>A	c.(1468-1470)GTG>ATG	p.V490M	APP_uc011acg.1_Translation_Start_Site|APP_uc010glk.2_Missense_Mutation_p.V466M|APP_uc002yma.2_Missense_Mutation_p.V471M|APP_uc011ach.1_Missense_Mutation_p.V434M|APP_uc002ymb.2_Missense_Mutation_p.V415M|APP_uc010glj.2_Missense_Mutation_p.V359M|APP_uc011aci.1_Missense_Mutation_p.V380M	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	490	Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				ATATTGAACACGTGACGAGGC	0.463												
TIAM1	7074	broad.mit.edu	37	21	32595734	32595734	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:32595734C>T	uc002yow.1	-	9	2455	c.1983G>A	c.(1981-1983)TCG>TCA	p.S661S	TIAM1_uc011adk.1_Silent_p.S661S|TIAM1_uc011adl.1_Silent_p.S661S|TIAM1_uc002yox.1_Silent_p.S269S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	661					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						GGGCATGAAACGATGATACCG	0.463												
IFNAR1	3454	broad.mit.edu	37	21	34697376	34697376	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:34697376C>A	uc002yrn.2	+	1	163	c.16C>A	c.(16-18)CTG>ATG	p.L6M	IFNAR1_uc011adv.1_Intron	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	6					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)	GGTCGTCCTCCTGGGCGCGAC	0.682												
ERG	2078	broad.mit.edu	37	21	39775628	39775628	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:39775628G>T	uc010gnw.2	-	6	708	c.413C>A	c.(412-414)CCT>CAT	p.P138H	ERG_uc002yxa.2_Missense_Mutation_p.P131H|ERG_uc011aek.1_Missense_Mutation_p.P39H|ERG_uc010gnv.2_Missense_Mutation_p.P39H|ERG_uc010gnx.2_Missense_Mutation_p.P138H|ERG_uc011ael.1_Missense_Mutation_p.P138H|ERG_uc002yxb.2_Missense_Mutation_p.P138H|ERG_uc011aem.1_Intron|ERG_uc002yxc.3_Missense_Mutation_p.P138H|ERG_uc010gny.1_RNA	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	138	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				CCATAGCGTAGGATCTGAAAG	0.512												
UMODL1	89766	broad.mit.edu	37	21	43496242	43496242	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:43496242C>T	uc002zaf.1	+	2	205	c.205C>T	c.(205-207)CGG>TGG	p.R69W	UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Missense_Mutation_p.R69W|uc002zah.1_RNA	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	69	Extracellular (Potential).|EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CCCCTGGAGGCGGTGCCCTAA	0.607												
UMODL1	89766	broad.mit.edu	37	21	43529775	43529775	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:43529775C>T	uc002zaf.1	+	10	1623	c.1623C>T	c.(1621-1623)GAC>GAT	p.D541D	UMODL1_uc002zad.1_Silent_p.D469D|UMODL1_uc002zae.1_Silent_p.D469D|UMODL1_uc002zag.1_Silent_p.D541D|C21orf128_uc002zak.2_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	541	EGF-like 2; calcium-binding (Potential).|Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CCACCAGGGACGCCACCCCCT	0.687												
C21orf58	54058	broad.mit.edu	37	21	47722461	47722461	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:47722461C>T	uc002zjf.2	-	8	1885	c.751G>A	c.(751-753)GCA>ACA	p.A251T	C21orf58_uc002ziz.2_Missense_Mutation_p.A168T|C21orf58_uc002zja.2_Missense_Mutation_p.A145T|C21orf58_uc011afw.1_Missense_Mutation_p.A168T|C21orf58_uc002zjc.2_Missense_Mutation_p.A145T|C21orf58_uc011afx.1_Missense_Mutation_p.A145T|C21orf58_uc010gqj.1_RNA	NM_058180	NP_478060	P58505	CU058_HUMAN	hypothetical protein LOC54058	251										pancreas(1)	1	Breast(49;0.112)			Colorectal(79;0.239)		TGCACCTGTGCGTTCTGCAGC	0.547												
BID	637	broad.mit.edu	37	22	18220977	18220977	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:18220977C>T	uc002znd.1	-	5	552	c.382G>A	c.(382-384)GCC>ACC	p.A128T	BID_uc002znc.1_Missense_Mutation_p.A174T|BID_uc002zne.1_Missense_Mutation_p.A32T|BID_uc010gra.1_RNA|BID_uc002znf.1_Missense_Mutation_p.A32T|BID_uc010grb.1_Missense_Mutation_p.A128T|BID_uc010grc.1_Missense_Mutation_p.A32T	NM_001196	NP_001187	P55957	BID_HUMAN	BH3 interacting domain death agonist isoform 2	128					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding				0		all_epithelial(15;0.198)		Lung(27;0.0419)		AGGGCAGTGGCCAGGTCCCTG	0.577												
HIRA	7290	broad.mit.edu	37	22	19398267	19398267	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:19398267G>A	uc002zpf.1	-	2	292	c.72C>T	c.(70-72)GAC>GAT	p.D24D	HIRA_uc011agx.1_Translation_Start_Site|HIRA_uc010grn.1_Silent_p.D24D|HIRA_uc010gro.1_Translation_Start_Site|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	24	WD 1.				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)					ACTTGGTCCCGTCAGGGTGAA	0.398												
C22orf25	128989	broad.mit.edu	37	22	20050943	20050943	+	Missense_Mutation	SNP	C	C	T	rs140525489		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:20050943C>T	uc010grw.1	+	9	1025	c.688C>T	c.(688-690)CGC>TGC	p.R230C	C22orf25_uc002zrb.1_Missense_Mutation_p.R168C|C22orf25_uc002zrc.1_Missense_Mutation_p.R230C|C22orf25_uc002zrd.1_Missense_Mutation_p.R196C|C22orf25_uc011ahe.1_RNA|C22orf25_uc011ahf.1_3'UTR|C22orf25_uc011ahg.1_Intron|C22orf25_uc002zrg.2_Missense_Mutation_p.R271C|C22orf25_uc011ahh.1_Missense_Mutation_p.A229V|C22orf25_uc002zrf.2_Missense_Mutation_p.R168C|C22orf25_uc011ahi.1_Missense_Mutation_p.R132C|C22orf25_uc010gry.1_RNA|C22orf25_uc002zrh.1_Missense_Mutation_p.R132C	NM_152906	NP_690870	Q6ICL3	CV025_HUMAN	hypothetical protein LOC128989	230											0	Colorectal(54;0.0533)					TGTGTGCGTGCGCTGCCCTGG	0.652												
ZNF74	7625	broad.mit.edu	37	22	20749701	20749701	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:20749701G>A	uc010gsm.2	+	3	325	c.113G>A	c.(112-114)AGG>AAG	p.R38K	ZNF74_uc002zsg.2_5'UTR|ZNF74_uc002zsh.2_Missense_Mutation_p.R38K|ZNF74_uc002zsi.2_Intron|ZNF74_uc010gsn.2_5'UTR	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	38					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCCGAAGCCAGGTCCAAGGTG	0.537												
DERL3	91319	broad.mit.edu	37	22	24180574	24180574	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:24180574C>T	uc002zyh.2	-	4	317	c.292G>A	c.(292-294)GTC>ATC	p.V98I	DERL3_uc002zyk.3_Missense_Mutation_p.V98I|DERL3_uc002zyi.2_Missense_Mutation_p.V98I|DERL3_uc002zyj.2_Missense_Mutation_p.V24I	NM_001002862	NP_001002862	Q96Q80	DERL3_HUMAN	derlin 3 isoform 2	98	Cytoplasmic (Potential).				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)	1						AACATGAAGACGAAGTCGGCC	0.652												
MIF	4282	broad.mit.edu	37	22	24236713	24236713	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:24236713G>T	uc002zyr.1	+	1	149	c.52G>T	c.(52-54)GGG>TGG	p.G18W	MIF_uc011aje.1_Missense_Mutation_p.G18W|uc002zys.1_3'UTR	NM_002415	NP_002406	P14174	MIF_HUMAN	macrophage migration inhibitory factor	18					cell proliferation|cell surface receptor linked signaling pathway|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of cell aging|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of gene expression|positive regulation of B cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase A signaling cascade|prostaglandin biosynthetic process|protein homotrimerization|regulation of macrophage activation	cell surface|cytoplasm|extracellular space	cell surface binding|chemoattractant activity|cytokine activity|cytokine receptor binding|dopachrome isomerase activity|phenylpyruvate tautomerase activity				0						CGTGCCGGACGGGTTCCTCTC	0.692												
CABIN1	23523	broad.mit.edu	37	22	24530289	24530289	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:24530289C>T	uc002zzi.1	+	29	4780	c.4653C>T	c.(4651-4653)GAC>GAT	p.D1551D	CABIN1_uc002zzj.1_Silent_p.D1472D|CABIN1_uc002zzl.1_Silent_p.D1551D	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1551					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GGGCCCGCGACGTGTTGCTAG	0.587												
CRYBB3	1417	broad.mit.edu	37	22	25598726	25598726	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:25598726A>C	uc003abo.1	+	3	233	c.161A>C	c.(160-162)GAG>GCG	p.E54A		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	54	Beta/gamma crystallin 'Greek key' 1.				visual perception		protein binding|structural constituent of eye lens				0						AGCCTGCTGGAGAAGGTGGGC	0.537											OREG0026423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EWSR1	2130	broad.mit.edu	37	22	29668385	29668385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:29668385G>A	uc003aet.2	+	3	395	c.67G>A	c.(67-69)GCC>ACC	p.A23T	EWSR1_uc003aes.3_Missense_Mutation_p.A23T|EWSR1_uc003aev.2_Missense_Mutation_p.A23T|EWSR1_uc003aew.2_Missense_Mutation_p.A23T|EWSR1_uc003aex.2_Missense_Mutation_p.A23T	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	23	EAD (Gln/Pro/Thr-rich).|2.|31 X approximate tandem repeats.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						TGCTTACACCGCCCAGCCCAC	0.368			T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma							
DRG1	4733	broad.mit.edu	37	22	31823111	31823111	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:31823111C>T	uc003aku.2	+	8	1078	c.947C>T	c.(946-948)ACC>ATC	p.T316I		NM_004147	NP_004138	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	316					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			central_nervous_system(1)	1						TACTCCAGGACCACAGTGGAG	0.418												
EIF4ENIF1	56478	broad.mit.edu	37	22	31859034	31859034	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:31859034G>A	uc003akz.1	-	6	835	c.671C>T	c.(670-672)GCT>GTT	p.A224V	EIF4ENIF1_uc003ala.1_Missense_Mutation_p.A224V|EIF4ENIF1_uc003alb.1_Intron	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	224						nucleus	protein binding|protein transporter activity			ovary(1)	1						TGTGGGTCCAGCAGAGAACCA	0.428												
PISD	23761	broad.mit.edu	37	22	32015676	32015676	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:32015676G>A	uc003alm.3	-	8	1159	c.1152C>T	c.(1150-1152)TTC>TTT	p.F384F	PISD_uc003alk.2_Silent_p.F350F|PISD_uc003all.2_3'UTR|PISD_uc011alr.1_Silent_p.F349F|PISD_uc003aln.3_Silent_p.F346F	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	384					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	TGGGGGCCTCGAAGATGAGCA	0.557												
LARGE	9215	broad.mit.edu	37	22	33670462	33670462	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:33670462C>T	uc003and.3	-	16	2801	c.2222G>A	c.(2221-2223)CGC>CAC	p.R741H	LARGE_uc011amd.1_Missense_Mutation_p.R540H|LARGE_uc003ane.3_Missense_Mutation_p.R741H|LARGE_uc010gwp.2_Missense_Mutation_p.R689H|LARGE_uc011ame.1_Missense_Mutation_p.R673H|LARGE_uc011amf.1_Missense_Mutation_p.R692H	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	741	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				AAAGCCGTAGCGGCGGGACAT	0.537											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TMPRSS6	164656	broad.mit.edu	37	22	37480395	37480395	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:37480395A>G	uc003aqs.1	-	10	1277	c.1163T>C	c.(1162-1164)CTG>CCG	p.L388P	TMPRSS6_uc003aqt.1_Missense_Mutation_p.L379P|TMPRSS6_uc003aqu.2_Missense_Mutation_p.L379P	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	388	CUB 2.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						CTGCCTCCTCAGTGCATAGGC	0.512												
DDX17	10521	broad.mit.edu	37	22	38894492	38894492	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:38894492G>A	uc003avy.3	-	4	728	c.625C>T	c.(625-627)CGG>TGG	p.R209W	DDX17_uc003avx.3_Missense_Mutation_p.R209W|DDX17_uc011anu.1_Missense_Mutation_p.R122W	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	130	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(3)|upper_aerodigestive_tract(1)	4	Melanoma(58;0.0286)					ACCATATCCCGGCCACTAAGA	0.438												
PDGFB	5155	broad.mit.edu	37	22	39621767	39621767	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:39621767C>T	uc003axf.2	-	6	1676	c.687G>A	c.(685-687)ACG>ACA	p.T229T	PDGFB_uc003axe.2_Silent_p.T214T	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	229					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	TCTTGTCATGCGTGTGCTTGA	0.622			T	COL1A1	DFSP							
MGAT3	4248	broad.mit.edu	37	22	39884484	39884484	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:39884484G>A	uc003axv.3	+	2	1371	c.1132G>A	c.(1132-1134)GGC>AGC	p.G378S	MGAT3_uc010gxy.2_Missense_Mutation_p.G378S	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	378	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					TGGGCTGGACGGCATCCGCCT	0.647												
EP300	2033	broad.mit.edu	37	22	41556645	41556645	+	Splice_Site	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:41556645G>T	uc003azl.3	+	20	3986	c.3591_splice	c.e20-1	p.R1197_splice		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CTTGCCGACAGGTATCATTTC	0.507			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome			
SAMM50	25813	broad.mit.edu	37	22	44379812	44379812	+	Splice_Site	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:44379812G>T	uc003bej.2	+	12	1205	c.1008_splice	c.e12-1	p.R336_splice	SAMM50_uc011aqd.1_Splice_Site_p.R126_splice|SAMM50_uc003bek.2_Splice_Site_p.R141_splice	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50						protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTTTGTCCTAGGTTTTACCTT	0.537												
UPK3A	7380	broad.mit.edu	37	22	45681923	45681923	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:45681923A>G	uc003bfy.2	+	2	160	c.154A>G	c.(154-156)AAA>GAA	p.K52E	UPK3A_uc010gzy.2_Missense_Mutation_p.K52E	NM_006953	NP_008884	O75631	UPK3A_HUMAN	uroplakin 3A precursor	52	Lumenal (Potential).				epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTTTGACAGCAAAGAGGCCCT	0.567												
FBLN1	2192	broad.mit.edu	37	22	45944543	45944543	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:45944543T>C	uc003bgj.1	+	13	1639	c.1492T>C	c.(1492-1494)TGC>CGC	p.C498R	FBLN1_uc003bgg.1_Missense_Mutation_p.C498R|FBLN1_uc003bgh.2_Missense_Mutation_p.C498R|FBLN1_uc010gzz.2_Missense_Mutation_p.C536R|FBLN1_uc003bgi.1_Missense_Mutation_p.C498R	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	498	EGF-like 8; calcium-binding.				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)		CTCCTACCGCTGCATCAACAT	0.652												
PANX2	56666	broad.mit.edu	37	22	50617614	50617614	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr22:50617614G>A	uc003bjn.3	+	3	1942	c.1942G>A	c.(1942-1944)GTG>ATG	p.V648M	PANX2_uc003bjp.3_Intron|PANX2_uc003bjo.3_Intron	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	648					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)		GCCGCAGGACGTGGGGGACCT	0.657												
SRGAP3	9901	broad.mit.edu	37	3	9027355	9027355	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:9027355C>T	uc003brf.1	-	22	3824	c.3148G>A	c.(3148-3150)GCC>ACC	p.A1050T	SRGAP3_uc003brg.1_Missense_Mutation_p.A1026T	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1050					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGGAGCTGGGCGCCAGCCAGG	0.751			T	RAF1	pilocytic astrocytoma							
MTMR14	64419	broad.mit.edu	37	3	9714373	9714373	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:9714373A>G	uc003brz.2	+	7	806	c.682A>G	c.(682-684)ACC>GCC	p.T228A	MTMR14_uc003bsa.2_Missense_Mutation_p.T228A|MTMR14_uc003bsb.2_Missense_Mutation_p.T228A|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Intron|MTMR14_uc003bsc.2_RNA	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	228						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					TTGTAGTGTAACCTCCTCTGA	0.488												
ZFYVE20	64145	broad.mit.edu	37	3	15116004	15116004	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:15116004C>T	uc003bzm.1	-	14	2254	c.1640G>A	c.(1639-1641)CGG>CAG	p.R547Q	ZFYVE20_uc010hek.1_Missense_Mutation_p.R547Q	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	547	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						GTCCAGGGACCGAGTCCGTGT	0.582												
RBMS3	27303	broad.mit.edu	37	3	30029683	30029683	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:30029683C>T	uc003cel.2	+	13	1378	c.1148C>T	c.(1147-1149)ACG>ATG	p.T383M	RBMS3_uc003cek.2_Missense_Mutation_p.T367M|RBMS3_uc010hfq.2_Missense_Mutation_p.T380M|RBMS3_uc003cem.2_Missense_Mutation_p.T365M|RBMS3_uc010hfr.2_Missense_Mutation_p.T367M	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	383						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				CCTCAGTACACGCCTGTGCCT	0.433												
EPM2AIP1	9852	broad.mit.edu	37	3	37033859	37033859	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:37033859C>T	uc003cgk.2	-	1	937	c.710G>A	c.(709-711)AGC>AAC	p.S237N	MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	EPM2A interacting protein 1	237						endoplasmic reticulum					0						TCTCTGCAAGCTAAGCCCTGC	0.498												
SCN10A	6336	broad.mit.edu	37	3	38793834	38793834	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:38793834C>A	uc003ciq.2	-	11	1631	c.1631G>T	c.(1630-1632)GGC>GTC	p.G544V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	544					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)	GCCTTGCTGGCCAGCACCCCC	0.602												
ZNF619	285267	broad.mit.edu	37	3	40529635	40529635	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:40529635A>T	uc011azb.1	+	6	2032	c.1754A>T	c.(1753-1755)AAC>ATC	p.N585I	ZNF619_uc010hhz.2_Missense_Mutation_p.N536I|ZNF619_uc003ckj.2_Missense_Mutation_p.N529I|ZNF619_uc011azc.1_Missense_Mutation_p.N545I|ZNF619_uc011azd.1_Missense_Mutation_p.N501I|ZNF619_uc011aza.1_Missense_Mutation_p.N487I	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619 isoform 1	585					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAAAAGGCCAACCCTTCACCT	0.522												
CTNNB1	1499	broad.mit.edu	37	3	41265566	41265566	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:41265566A>G	uc010hia.1	+	3	163	c.7A>G	c.(7-9)ACT>GCT	p.T3A	CTNNB1_uc003ckp.2_Missense_Mutation_p.T3A|CTNNB1_uc003ckq.2_Missense_Mutation_p.T3A|CTNNB1_uc003ckr.2_Missense_Mutation_p.T3A|CTNNB1_uc011azf.1_5'UTR|CTNNB1_uc011azg.1_Missense_Mutation_p.T3A|uc010hib.1_Intron	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	3	Interaction with VCL (By similarity).				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T3_A126del(2)|p.A5_A80del(2)|p.T3S(2)|p.M1_V173del(1)|p.?(1)|p.M1_T42del(1)|p.M1_A87del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GACAATGGCTACTCAAGGTTT	0.393		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of			
VIPR1	7433	broad.mit.edu	37	3	42568962	42568962	+	Silent	SNP	C	C	T	rs149397146	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:42568962C>T	uc003clf.2	+	5	601	c.477C>T	c.(475-477)GTC>GTT	p.V159V	VIPR1_uc011azl.1_Silent_p.V111V|VIPR1_uc011azm.1_Intron|VIPR1_uc011azn.1_Silent_p.V132V	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	159	Helical; Name=1; (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCTTCTGGTCGCCACAGCTA	0.612												
FYCO1	79443	broad.mit.edu	37	3	46009009	46009009	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:46009009T>C	uc003cpb.3	-	8	2023	c.1817A>G	c.(1816-1818)CAA>CGA	p.Q606R	FYCO1_uc011bal.1_Missense_Mutation_p.Q606R	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	606	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTGCCCTCTTGCACCTTGGT	0.627												
CCR2	729230	broad.mit.edu	37	3	46399125	46399125	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:46399125A>T	uc003cpn.3	+	2	592	c.107A>T	c.(106-108)GAC>GTC	p.D36V	CCR2_uc003cpm.3_Missense_Mutation_p.D36V	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2 isoform A	36	Extracellular (Potential).				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			lung(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CATAAATTTGACGTGAAGCAA	0.463												
SETD2	29072	broad.mit.edu	37	3	47147551	47147551	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:47147551C>T	uc003cqs.2	-	6	4828	c.4775G>A	c.(4774-4776)CGA>CAA	p.R1592Q	SETD2_uc003cqv.2_Missense_Mutation_p.R1581Q	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1592	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		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)		CTCCTTCACTCGAGCTTTAAA	0.398			N|F|S|Mis		clear cell renal carcinoma							
PTPN23	25930	broad.mit.edu	37	3	47449946	47449946	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:47449946C>T	uc003crf.1	+	15	1392	c.1296C>T	c.(1294-1296)CCC>CCT	p.P432P	PTPN23_uc011baw.1_Silent_p.P397P|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Silent_p.P302P	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	432					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)		GCGTCCGGCCCGACACTGTCA	0.587												
PLXNB1	5364	broad.mit.edu	37	3	48454291	48454291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:48454291C>T	uc003csw.2	-	25	4984	c.4714G>A	c.(4714-4716)GCG>ACG	p.A1572T	PLXNB1_uc003cst.2_Missense_Mutation_p.A22T|PLXNB1_uc003csu.2_Missense_Mutation_p.A1389T|PLXNB1_uc003csx.2_Missense_Mutation_p.A1572T	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1572	Cytoplasmic (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATCCTCTCCGCATACACCTTG	0.617												
COL7A1	1294	broad.mit.edu	37	3	48612948	48612948	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:48612948G>A	uc003ctz.2	-	73	6005	c.6004C>T	c.(6004-6006)CGC>TGC	p.R2002C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2002	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)		TTCAGCCCGCGTTCTCCAGGA	0.692												
COL7A1	1294	broad.mit.edu	37	3	48628240	48628240	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:48628240C>T	uc003ctz.2	-	13	1647	c.1646G>A	c.(1645-1647)CGG>CAG	p.R549Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	549	Fibronectin type-III 4.|Nonhelical region (NC1).				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)		CACCAGGGTCCGCTCAACCCC	0.587												
AMIGO3	386724	broad.mit.edu	37	3	49755668	49755668	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:49755668G>A	uc003cxj.2	-	1	1571	c.1231C>T	c.(1231-1233)CGC>TGC	p.R411C	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	411	Cytoplasmic (Potential).				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		caggcacggcggcagcagcgg	0.522												
DNAH1	25981	broad.mit.edu	37	3	52395698	52395698	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:52395698C>T	uc011bef.1	+	30	5157	c.4896C>T	c.(4894-4896)TTC>TTT	p.F1632F		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1632	CFDEFNR motif.|AAA 1 (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)		GGGCCTGCTTCGACGAGTTCA	0.642												
ITIH3	3699	broad.mit.edu	37	3	52841006	52841006	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:52841006G>A	uc003dfv.2	+	19	2182	c.2146G>A	c.(2146-2148)GCC>ACC	p.A716T	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	716				A -> R (in Ref. 1; CAA47439 and 8; CAA32821).	hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACTGGGCATCGCCAATGCTCA	0.562												
CHDH	55349	broad.mit.edu	37	3	53857838	53857838	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:53857838G>A	uc003dgz.2	-	3	638	c.198C>T	c.(196-198)CGC>CGT	p.R66R		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	66	FAD (By similarity).				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)	GCAGCAGCACGCGCTCGGCGG	0.721												
ACTR8	93973	broad.mit.edu	37	3	53911269	53911269	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:53911269T>C	uc003dhd.2	-	5	715	c.656A>G	c.(655-657)TAC>TGC	p.Y219C	ACTR8_uc003dhb.2_Translation_Start_Site|ACTR8_uc003dhc.2_Missense_Mutation_p.Y108C	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	219					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				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)		GATTTCCAAGTATTTTTGTAT	0.388												
ABHD6	57406	broad.mit.edu	37	3	58279408	58279408	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:58279408G>A	uc003djs.3	+	9	1340	c.930G>A	c.(928-930)ATG>ATA	p.M310I	ABHD6_uc003djr.2_Missense_Mutation_p.M311I|ABHD6_uc003djt.3_Missense_Mutation_p.M310I	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	310	Cytoplasmic (Potential).					integral to membrane	acylglycerol lipase activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CAGTAGTGATGGAAAGACCCA	0.532												
ADAMTS9	56999	broad.mit.edu	37	3	64619404	64619404	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:64619404T>C	uc003dmg.2	-	13	2040	c.2008A>G	c.(2008-2010)AAT>GAT	p.N670D	ADAMTS9_uc011bfo.1_Missense_Mutation_p.N642D|ADAMTS9_uc003dmh.1_Missense_Mutation_p.N499D|ADAMTS9_uc003dmk.1_Missense_Mutation_p.N670D	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	670	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGCGCACATTGGGAAGCAGA	0.522												
FAM19A4	151647	broad.mit.edu	37	3	68788325	68788325	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:68788325C>G	uc003dnh.1	-	5	755	c.312G>C	c.(310-312)TGG>TGC	p.W104C	FAM19A4_uc003dni.1_Missense_Mutation_p.W104C	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine	104						extracellular region				skin(2)	2		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TCATGTGACACCACCATTTCT	0.403												
C3orf64	285203	broad.mit.edu	37	3	69027566	69027566	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:69027566C>T	uc003dnl.2	-	17	1760	c.1355G>A	c.(1354-1356)CGC>CAC	p.R452H	C3orf64_uc003dnj.2_Missense_Mutation_p.R131H|C3orf64_uc003dnk.2_Missense_Mutation_p.R368H|C3orf64_uc011bfw.1_RNA	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	AER61 glycosyltransferase	452						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)	1		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		TAAGTAACAGCGTTCATCTTC	0.433												
ROBO2	6092	broad.mit.edu	37	3	77147272	77147272	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:77147272C>T	uc003dpy.3	+	2	812	c.169C>T	c.(169-171)CGG>TGG	p.R57W	ROBO2_uc003dpz.2_Missense_Mutation_p.R57W|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R57W	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	57	Ig-like C2-type 1.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGCGGAGGGCCGGCCAACGCC	0.607												
HTR1F	3355	broad.mit.edu	37	3	88040785	88040785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:88040785G>T	uc003dqr.2	+	2	1044	c.886G>T	c.(886-888)GGA>TGA	p.G296*		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	296	Helical; Name=6; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CACTACCCTGGGATTAATCTT	0.378												
ARL13B	200894	broad.mit.edu	37	3	93768344	93768344	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:93768344G>A	uc003drc.2	+	8	1405	c.1119G>A	c.(1117-1119)ACG>ACA	p.T373T	ARL13B_uc010hop.2_Silent_p.T224T|ARL13B_uc003drd.2_Silent_p.T266T|ARL13B_uc003dre.2_Silent_p.T358T|ARL13B_uc003drf.2_Silent_p.T373T|ARL13B_uc003drg.2_Silent_p.T270T	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	373	Pro-rich.						GTP binding				0						AGAGTCCAACGCCACCCCCAC	0.373												
BOC	91653	broad.mit.edu	37	3	112969475	112969475	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:112969475C>T	uc003dzx.2	+	4	792	c.171C>T	c.(169-171)TGC>TGT	p.C57C	BOC_uc010hqi.2_Silent_p.C57C|BOC_uc003dzy.2_Silent_p.C57C|BOC_uc003dzz.2_Silent_p.C57C|BOC_uc003dzw.1_Silent_p.C57C|BOC_uc003eaa.1_Silent_p.C57C	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	57	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			TCTTGGGCTGCGTGGTGGAAC	0.597												
BOC	91653	broad.mit.edu	37	3	112993495	112993495	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:112993495C>T	uc003dzx.2	+	9	2129	c.1508C>T	c.(1507-1509)GCG>GTG	p.A503V	BOC_uc003dzy.2_Missense_Mutation_p.A503V|BOC_uc003dzz.2_Missense_Mutation_p.A503V|BOC_uc003eab.2_Missense_Mutation_p.A204V	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	503	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			AGTGGCCGGGCGCCAATCCTC	0.632												
WDR52	55779	broad.mit.edu	37	3	113122717	113122717	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:113122717C>T	uc003eae.1	-	9	1198	c.1152G>A	c.(1150-1152)GGG>GGA	p.G384G		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	384	WD 4.									central_nervous_system(1)	1						ATCCATCTGACCCAACAGTGA	0.433												
CD80	941	broad.mit.edu	37	3	119263419	119263419	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:119263419A>G	uc003ecq.2	-	3	791	c.396T>C	c.(394-396)GCT>GCC	p.A132A	CD80_uc010hqt.1_Silent_p.A132A|CD80_uc010hqu.1_Silent_p.A132A|CD80_uc003ecr.1_Silent_p.A132A	NM_005191	NP_005182	P33681	CD80_HUMAN	CD80 antigen precursor	132	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2					Abatacept(DB01281)	ACGTCACTTCAGCCAGGTGTT	0.463												
CD80	941	broad.mit.edu	37	3	119263442	119263442	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:119263442C>T	uc003ecq.2	-	3	768	c.373G>A	c.(373-375)GCT>ACT	p.A125T	CD80_uc010hqt.1_Missense_Mutation_p.A125T|CD80_uc010hqu.1_Missense_Mutation_p.A125T|CD80_uc003ecr.1_Missense_Mutation_p.A125T	NM_005191	NP_005182	P33681	CD80_HUMAN	CD80 antigen precursor	125	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2					Abatacept(DB01281)	CGCTTGAAAGCGTCTTTTTCA	0.453												
NR1I2	8856	broad.mit.edu	37	3	119534599	119534599	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:119534599G>A	uc003edj.2	+	8	2920	c.1081G>A	c.(1081-1083)GTG>ATG	p.V361M	NR1I2_uc003edi.2_Missense_Mutation_p.V324M|NR1I2_uc003edk.2_Missense_Mutation_p.V400M|NR1I2_uc003edl.2_Missense_Mutation_p.V249M	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	361	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GCAGCACCGCGTGGTGGACCA	0.597												
PDIA5	10954	broad.mit.edu	37	3	122864423	122864424	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:122864423_122864424TC>AA	uc003egc.1	+	12	1021_1022	c.965_966TC>AA	c.(964-966)CTC>CAA	p.L322Q	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	322	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		GCAGAAGCCCTCCATGGAGAAG	0.51												
PLXNA1	5361	broad.mit.edu	37	3	126710304	126710304	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:126710304G>A	uc003ejg.2	+	2	1207	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	424	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TTGAGGGGACGCCCCTGTTCG	0.647												
PLXNA1	5361	broad.mit.edu	37	3	126732871	126732871	+	Silent	SNP	C	C	T	rs147176760		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:126732871C>T	uc003ejg.2	+	10	2257	c.2253C>T	c.(2251-2253)TAC>TAT	p.Y751Y		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	774	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		AGTACTCCTACGAGGGGAACG	0.597												
COPG	22820	broad.mit.edu	37	3	128973580	128973580	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:128973580C>T	uc003els.2	+	6	493	c.393C>T	c.(391-393)ATC>ATT	p.I131I	COPG_uc010htb.2_Silent_p.I37I	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	131					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						TCTGCCAGATCACTGATGTGA	0.562												
SLCO2A1	6578	broad.mit.edu	37	3	133664053	133664053	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:133664053C>T	uc003eqa.3	-	10	1621	c.1347G>A	c.(1345-1347)TCG>TCA	p.S449S	SLCO2A1_uc003eqb.3_Silent_p.S373S|SLCO2A1_uc011blv.1_Silent_p.S268S	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	449	Extracellular (Potential).|Kazal-like.				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						AATCTGGGCACGAGCAGTCCC	0.527												
PLCH1	23007	broad.mit.edu	37	3	155200068	155200068	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:155200068C>T	uc011bok.1	-	23	4048	c.3771G>A	c.(3769-3771)GAG>GAA	p.E1257E	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.E1219E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1257					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGCTATCAGCTCCGGAGATG	0.483												
GMPS	8833	broad.mit.edu	37	3	155633942	155633942	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:155633942T>C	uc003faq.2	+	9	1508	c.1173T>C	c.(1171-1173)CAT>CAC	p.H391H	GMPS_uc011bom.1_Silent_p.H292H	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	391					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCAAAACCCATCACAATGACA	0.408			T	MLL	AML							
MLF1	4291	broad.mit.edu	37	3	158315874	158315874	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:158315874A>C	uc003fcb.2	+	4	422	c.285A>C	c.(283-285)CAA>CAC	p.Q95H	MLF1_uc003fbz.2_Missense_Mutation_p.Q70H|MLF1_uc003fca.2_Missense_Mutation_p.Q70H|MLF1_uc003fbx.2_Missense_Mutation_p.Q85H|MLF1_uc003fcc.2_Missense_Mutation_p.Q126H|MLF1_uc003fby.2_Missense_Mutation_p.Q21H|MLF1_uc010hvx.2_Intron	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	95	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TGTAGGGTCAACTTTCAGTGG	0.358			T	NPM1	AML							
WDR49	151790	broad.mit.edu	37	3	167277851	167277851	+	Splice_Site	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:167277851C>T	uc003fev.1	-	5	957	c.651_splice	c.e5+1	p.K217_splice	WDR49_uc003feu.1_Splice_Site_p.K42_splice|WDR49_uc011bpd.1_Splice_Site_p.K270_splice|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49											large_intestine(1)|ovary(1)|skin(1)	3						TGTGTTCGCACCTTTACAGTC	0.428												
SAMD7	344658	broad.mit.edu	37	3	169642884	169642884	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:169642884G>A	uc003fgd.2	+	5	517	c.250G>A	c.(250-252)GCC>ACC	p.A84T	SAMD7_uc003fge.2_Missense_Mutation_p.A84T|SAMD7_uc011bpo.1_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	84										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAAGGCAGTGGCCAGAAGGAA	0.353												
SLC7A14	57709	broad.mit.edu	37	3	170204121	170204121	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:170204121T>C	uc003fgz.2	-	5	1112	c.796A>G	c.(796-798)ATT>GTT	p.I266V	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	266	Helical; (Potential).					integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCAAAGCCAATGAAAGCGTAG	0.527												
EIF4G1	1981	broad.mit.edu	37	3	184043127	184043127	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:184043127G>A	uc003fnp.2	+	19	3125	c.2927G>A	c.(2926-2928)CGC>CAC	p.R976H	EIF4G1_uc003fno.1_Missense_Mutation_p.R917H|EIF4G1_uc010hxw.1_Missense_Mutation_p.R812H|EIF4G1_uc003fnt.2_Missense_Mutation_p.R687H|EIF4G1_uc003fnq.2_Missense_Mutation_p.R889H|EIF4G1_uc003fnr.2_Missense_Mutation_p.R812H|EIF4G1_uc010hxx.2_Missense_Mutation_p.R983H|EIF4G1_uc003fns.2_Missense_Mutation_p.R936H|EIF4G1_uc010hxy.2_Missense_Mutation_p.R983H|EIF4G1_uc003fnv.3_Missense_Mutation_p.R977H|EIF4G1_uc003fnu.3_Missense_Mutation_p.R976H|EIF4G1_uc003fnw.2_Missense_Mutation_p.R983H|EIF4G1_uc003fnx.2_Missense_Mutation_p.R781H|EIF4G1_uc003fny.3_Missense_Mutation_p.R780H|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	976	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCCGCATCCGCTTTATGCTG	0.527												
CLCN2	1181	broad.mit.edu	37	3	184075996	184075996	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:184075996G>A	uc003foi.2	-	4	579	c.455C>T	c.(454-456)ACA>ATA	p.T152I	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.T152I|CLCN2_uc011brl.1_Missense_Mutation_p.T152I|CLCN2_uc011brm.1_Missense_Mutation_p.T108I|CLCN2_uc011brn.1_Missense_Mutation_p.T152I	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	152	Helical; (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGGATCTGTGTGAATCCGGC	0.582												
MAP3K13	9175	broad.mit.edu	37	3	185167821	185167821	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:185167821T>C	uc010hyf.2	+	7	1410	c.1144T>C	c.(1144-1146)TTC>CTC	p.F382L	MAP3K13_uc011brt.1_Missense_Mutation_p.F175L|MAP3K13_uc003fph.3_Missense_Mutation_p.F150L|MAP3K13_uc011bru.1_Missense_Mutation_p.F238L|MAP3K13_uc003fpi.2_Missense_Mutation_p.F382L|MAP3K13_uc010hyg.2_Missense_Mutation_p.F72L	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	382	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCCTGATGGATTCAAAATCCT	0.388												
LSG1	55341	broad.mit.edu	37	3	194373625	194373625	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:194373625A>G	uc003fui.2	-	8	1321	c.1006T>C	c.(1006-1008)TGG>CGG	p.W336R		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	336					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CTTTCCTTCCAGTCCTGGCTG	0.522												
MUC4	4585	broad.mit.edu	37	3	195492283	195492283	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:195492283T>C	uc011bto.1	-	10	13732	c.13272A>G	c.(13270-13272)GAA>GAG	p.E4424E	MUC4_uc003fuz.2_Silent_p.E150E|MUC4_uc003fva.2_Silent_p.E32E|MUC4_uc003fvb.2_Silent_p.E68E|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.E68E|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.E32E|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.E116E|MUC4_uc011bti.1_Silent_p.E116E|MUC4_uc011btj.1_Silent_p.E293E|MUC4_uc011btk.1_Silent_p.E32E|MUC4_uc011btl.1_Silent_p.E61E|MUC4_uc011btm.1_Silent_p.E241E|MUC4_uc011btn.1_Silent_p.E32E|MUC4_uc003fvo.2_Silent_p.E316E|MUC4_uc003fvp.2_Silent_p.E265E|MUC4_uc010hzu.1_Silent_p.E1164E	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1309	NIDO.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGGCCTTTCTTCCCGGTGTA	0.652												
FBXO45	200933	broad.mit.edu	37	3	196304666	196304666	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:196304666G>A	uc010iai.2	+	2	792	c.661G>A	c.(661-663)GCA>ACA	p.A221T		NM_001105573	NP_001099043	P0C2W1	FBSP1_HUMAN	F-box protein 45	221	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			skin(1)	1	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GTGCAACAACGCACCAAAATA	0.403												
DLG1	1739	broad.mit.edu	37	3	196792610	196792610	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:196792610T>C	uc003fxo.3	-	22	2392	c.2202A>G	c.(2200-2202)GAA>GAG	p.E734E	DLG1_uc011bub.1_Silent_p.E630E|DLG1_uc011buc.1_Silent_p.E618E|DLG1_uc011bud.1_Silent_p.E417E|DLG1_uc003fxn.3_Silent_p.E756E|DLG1_uc011bue.1_Silent_p.E722E|DLG1_uc010ial.2_Silent_p.E734E	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	734	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGTCAGGAAATTCTGAGATCA	0.333												
MAEA	10296	broad.mit.edu	37	4	1332301	1332301	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:1332301G>A	uc003gda.2	+	8	1021	c.991G>A	c.(991-993)GCC>ACC	p.A331T	MAEA_uc003gdb.2_Missense_Mutation_p.A290T|MAEA_uc011bvb.1_Missense_Mutation_p.A263T|MAEA_uc003gdc.2_Missense_Mutation_p.A263T|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Missense_Mutation_p.A330T|MAEA_uc011bvd.1_Missense_Mutation_p.A283T|MAEA_uc010ibt.2_Missense_Mutation_p.A104T|MAEA_uc010ibu.2_RNA	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	331					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CCTGCCCATGGCCCACTGTGC	0.612												
EVC2	132884	broad.mit.edu	37	4	5664972	5664972	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:5664972A>C	uc003gij.2	-	9	1061	c.1007T>G	c.(1006-1008)GTT>GGT	p.V336G	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.V256G	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	336						integral to membrane				large_intestine(3)|ovary(2)	5						ATACTGCCAAACCTTCAGGAG	0.498												
TBC1D14	57533	broad.mit.edu	37	4	6925517	6925517	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:6925517G>A	uc011bwg.1	+	2	480	c.401G>A	c.(400-402)GGC>GAC	p.G134D	TBC1D14_uc003gjs.3_Missense_Mutation_p.G134D	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	134						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						CCCAGGACAGGCTATGACTCG	0.617												
DRD5	1816	broad.mit.edu	37	4	9784677	9784677	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:9784677G>A	uc003gmb.3	+	1	1420	c.1024G>A	c.(1024-1026)GAC>AAC	p.D342N		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	342	Helical; Name=7; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GACCACCTTCGACGTCTTCGT	0.597												
HS3ST1	9957	broad.mit.edu	37	4	11401356	11401356	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:11401356A>G	uc003gmq.2	-	2	597	c.274T>C	c.(274-276)TGG>CGG	p.W92R		NM_005114	NP_005105	O14792	HS3S1_HUMAN	heparan sulfate D-glucosaminyl	92						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			skin(1)	1						TGCTCCTCCCAGTCGAAGAAG	0.647												
C1QTNF7	114905	broad.mit.edu	37	4	15437604	15437604	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:15437604A>G	uc011bxb.1	+	2	464	c.237A>G	c.(235-237)GCA>GCG	p.A79A	C1QTNF7_uc003gno.2_Silent_p.A86A|C1QTNF7_uc003gnp.2_Silent_p.A79A	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	79	Collagen-like.					collagen					0						AGGGAACTGCAGGTAATGAAT	0.478												
SLIT2	9353	broad.mit.edu	37	4	20599972	20599972	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:20599972C>T	uc003gpr.1	+	33	3850	c.3646C>T	c.(3646-3648)CGT>TGT	p.R1216C	SLIT2_uc003gps.1_Missense_Mutation_p.R1208C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1216	Laminin G-like.				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						GGGGCGTGTTCGTGCCAGCTA	0.463												
PACRGL	133015	broad.mit.edu	37	4	20714531	20714531	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:20714531C>A	uc010iek.2	+	6	878	c.487C>A	c.(487-489)CTA>ATA	p.L163I	PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.L211I|PACRGL_uc003gpz.2_Missense_Mutation_p.L163I|PACRGL_uc011bxm.1_Missense_Mutation_p.L110I|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.L163I|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Missense_Mutation_p.L110I	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like isoform 1	163							binding				0						GATTCCTGTGCTAAAGGCAGC	0.333												
TBC1D1	23216	broad.mit.edu	37	4	38016279	38016279	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:38016279G>A	uc003gtb.2	+	3	910	c.567G>A	c.(565-567)CCG>CCA	p.P189P	TBC1D1_uc011byd.1_Silent_p.P189P|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.P60P	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	189						nucleus	Rab GTPase activator activity			ovary(1)	1						AGAAGGCTCCGCCGGCCCTGA	0.667												
KLF3	51274	broad.mit.edu	37	4	38698768	38698768	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:38698768A>G	uc003gth.3	+	6	1254	c.922A>G	c.(922-924)ACA>GCA	p.T308A		NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	308	C2H2-type 2.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						TGATGAACTAACAAGACATTT	0.443												
LIAS	11019	broad.mit.edu	37	4	39462409	39462409	+	Splice_Site	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:39462409G>T	uc003guf.2	+	2	119	c.46_splice	c.e2-1	p.V16_splice	RPL9_uc003gub.2_5'Flank|RPL9_uc003guc.2_5'Flank|RPL9_uc011byk.1_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.3_Splice_Site_p.V16_splice|LIAS_uc011bym.1_Splice_Site_p.V16_splice|LIAS_uc003gug.2_Splice_Site_p.V16_splice|LIAS_uc003guh.2_Splice_Site_p.V16_splice	NM_006859	NP_006850	O43766	LIAS_HUMAN	lipoic acid synthetase isoform 1 precursor						inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding				0					Lipoic Acid(DB00166)	TCTTTCTTTAGGTATTTGGGA	0.373												
CNGA1	1259	broad.mit.edu	37	4	47939078	47939078	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:47939078C>T	uc003gxt.3	-	11	1699	c.1433G>A	c.(1432-1434)CGC>CAC	p.R478H	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R547H	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	478	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						AGCAAAAATGCGTACCTTTTT	0.378												
PDGFRA	5156	broad.mit.edu	37	4	54248502	54248502	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:54248502G>A	uc003haa.2	+	4	414	c.228G>A	c.(226-228)CCG>CCA	p.P76P	FIP1L1_uc003gzx.3_Silent_p.P61P|FIP1L1_uc011bzt.1_Silent_p.P76P|FIP1L1_uc003gzy.2_Silent_p.P76P|FIP1L1_uc011bzu.1_Silent_p.P61P|FIP1L1_uc003gzz.2_Silent_p.P61P|FIP1L1_uc003hab.2_Silent_p.P64P|FIP1L1_uc003hac.2_5'UTR	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TACCAAAACCGGTAACATAAG	0.348			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
STAP1	26228	broad.mit.edu	37	4	68459005	68459005	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:68459005A>G	uc003hde.3	+	8	839	c.757A>G	c.(757-759)ATT>GTT	p.I253V	STAP1_uc003hdf.2_Missense_Mutation_p.I253V	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	253	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm					0						TTTCAGTGTCATTGATTATTT	0.363												
TMPRSS11D	9407	broad.mit.edu	37	4	68691524	68691524	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:68691524G>A	uc003hdq.2	-	9	1086	c.1021C>T	c.(1021-1023)CAT>TAT	p.H341Y	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_Missense_Mutation_p.H122Y|TMPRSS11D_uc011caj.1_Missense_Mutation_p.H224Y	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	341	Peptidase S1.|Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						TTATAACTATGTGGTGCATTA	0.433												
CCDC158	339965	broad.mit.edu	37	4	77283362	77283362	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:77283362C>T	uc003hkb.3	-	12	2090	c.1937G>A	c.(1936-1938)CGT>CAT	p.R646H		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	646	Potential.									skin(3)|ovary(2)|pancreas(1)	6						CTTCACTGCACGGAGCCGCTC	0.438												
PRKG2	5593	broad.mit.edu	37	4	82063969	82063969	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:82063969A>G	uc003hmh.2	-	10	1400	c.1386T>C	c.(1384-1386)GGT>GGC	p.G462G	PRKG2_uc011ccf.1_Silent_p.G42G|PRKG2_uc011ccg.1_Silent_p.G42G|PRKG2_uc011cch.1_Intron	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	462	Protein kinase.|ATP (By similarity).				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						TTCCGAACCCACCAACGCCCA	0.438												
CDS1	1040	broad.mit.edu	37	4	85525440	85525440	+	Silent	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:85525440A>C	uc011ccv.1	+	2	660	c.162A>C	c.(160-162)ACA>ACC	p.T54T		NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	54					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ATTCCAGAACAGATTCTGATA	0.353												
WDFY3	23001	broad.mit.edu	37	4	85605111	85605111	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:85605111T>C	uc003hpd.2	-	63	10119	c.9711A>G	c.(9709-9711)TCA>TCG	p.S3237S	WDFY3_uc003hpc.2_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3237	WD 4.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCACTCCATCTGAGTGTCCTG	0.453												
WDFY3	23001	broad.mit.edu	37	4	85636503	85636503	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:85636503G>A	uc003hpd.2	-	50	8317	c.7909C>T	c.(7909-7911)CGG>TGG	p.R2637W	WDFY3_uc003hpe.1_Missense_Mutation_p.R248W	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2637						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGTAATTCCGTCCATCTCCA	0.333												
AFF1	4299	broad.mit.edu	37	4	88053502	88053502	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:88053502A>G	uc003hqj.3	+	18	3639	c.3232A>G	c.(3232-3234)AAT>GAT	p.N1078D	AFF1_uc011ccz.1_Missense_Mutation_p.N1085D|AFF1_uc003hqk.3_Missense_Mutation_p.N1078D|AFF1_uc011cda.1_Missense_Mutation_p.N716D	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1078						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCGTACTCTTAATAAACACTT	0.383												
SNCA	6622	broad.mit.edu	37	4	90743423	90743423	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:90743423A>C	uc003hsq.2	-	4	539	c.280T>G	c.(280-282)TTT>GTT	p.F94V	SNCA_uc010ikt.2_Missense_Mutation_p.F80V|SNCA_uc003hso.2_Missense_Mutation_p.F94V|SNCA_uc003hsp.2_Missense_Mutation_p.F94V|SNCA_uc003hsr.2_Missense_Mutation_p.F94V	NM_001146054	NP_001139526	P37840	SYUA_HUMAN	alpha-synuclein isoform NACP140	94				Missing: Reduces polymerization into amyloid fibrils.	activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TTTTTGACAAAGCCAGTGGCT	0.502												
UNC5C	8633	broad.mit.edu	37	4	96140152	96140152	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:96140152G>A	uc003htp.1	-	9	1767	c.1613C>T	c.(1612-1614)TCG>TTG	p.S538L	UNC5C_uc010ilc.1_Missense_Mutation_p.S557L|UNC5C_uc003htq.2_Missense_Mutation_p.S557L	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	538	Cytoplasmic (Potential).|ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACCTCCCAGCGAGTTGAAGCT	0.443												
MANBA	4126	broad.mit.edu	37	4	103557139	103557139	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:103557139A>G	uc003hwg.2	-	15	2140	c.2040T>C	c.(2038-2040)CTT>CTC	p.L680L	MANBA_uc011ces.1_Silent_p.L623L	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	680					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CAAAGTAATGAAGCATTTTCC	0.438												
COL25A1	84570	broad.mit.edu	37	4	109740459	109740459	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:109740459T>C	uc003hze.1	-	35	2403	c.1872A>G	c.(1870-1872)AAA>AAG	p.K624K	COL25A1_uc003hzd.2_Intron	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	624	Extracellular (Potential).|Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTGGCTCCCCTTTTTCCCCCT	0.453												
AP1AR	55435	broad.mit.edu	37	4	113189433	113189433	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:113189433G>A	uc003iaj.3	+	10	1130	c.777G>A	c.(775-777)GAG>GAA	p.E259E	AP1AR_uc003iak.3_Silent_p.E226E	NM_018569	NP_061039	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated	259					protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle					0						ATGGGCTGGAGTGGGAAAATG	0.403												
ANK2	287	broad.mit.edu	37	4	114277090	114277090	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:114277090C>T	uc003ibe.3	+	38	7416	c.7316C>T	c.(7315-7317)GCC>GTC	p.A2439V	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.A2454V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2406					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTCTGGAAGCCAGCCCTGTG	0.527												
NDST3	9348	broad.mit.edu	37	4	119154231	119154231	+	Silent	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:119154231A>C	uc003ibx.2	+	9	2287	c.1884A>C	c.(1882-1884)CCA>CCC	p.P628P	NDST3_uc011cgf.1_Silent_p.P547P	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	628	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						CCCCCAGCCCAAAAACCTTTG	0.358												
PRSS12	8492	broad.mit.edu	37	4	119204068	119204068	+	Silent	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:119204068A>C	uc003ica.1	-	12	2285	c.2238T>G	c.(2236-2238)GTT>GTG	p.V746V		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	746	Peptidase S1.					membrane	scavenger receptor activity			skin(1)	1						AGGCTGGCAAAACATGGCTGC	0.473												
KIAA1109	84162	broad.mit.edu	37	4	123120577	123120577	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:123120577G>A	uc003ieh.2	+	12	1397	c.1352G>A	c.(1351-1353)CGG>CAG	p.R451Q	KIAA1109_uc003iei.1_Missense_Mutation_p.R205Q|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	451					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ATGCAATATCGGACCCTTTTA	0.318												
KIAA1109	84162	broad.mit.edu	37	4	123159371	123159371	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:123159371A>G	uc003ieh.2	+	26	3744	c.3699A>G	c.(3697-3699)TCA>TCG	p.S1233S	KIAA1109_uc003iei.1_Silent_p.S986S|KIAA1109_uc010ins.1_Silent_p.S576S|KIAA1109_uc003iek.2_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1233	Poly-Ser.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CCTCTTCCTCAGAAGAGAACA	0.408												
FAT4	79633	broad.mit.edu	37	4	126238469	126238469	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:126238469G>T	uc003ifj.3	+	1	903	c.903G>T	c.(901-903)GAG>GAT	p.E301D		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	301	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGGACCCTGAGACGGGACTTA	0.667											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAT4	79633	broad.mit.edu	37	4	126320048	126320048	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:126320048T>C	uc003ifj.3	+	2	5285	c.5285T>C	c.(5284-5286)CTG>CCG	p.L1762P	FAT4_uc011cgp.1_Missense_Mutation_p.L60P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1762	Cadherin 17.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATTATGCAGCTGACAGCCATG	0.423												
FAT4	79633	broad.mit.edu	37	4	126329902	126329902	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:126329902C>A	uc003ifj.3	+	4	5873	c.5873C>A	c.(5872-5874)CCT>CAT	p.P1958H	FAT4_uc011cgp.1_Missense_Mutation_p.P256H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1958	Cadherin 19.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAGAATCTACCTGTGGGATCT	0.289												
FAT4	79633	broad.mit.edu	37	4	126371861	126371861	+	Silent	SNP	G	G	A	rs142877205	by1000genomes	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:126371861G>A	uc003ifj.3	+	9	9690	c.9690G>A	c.(9688-9690)GCG>GCA	p.A3230A	FAT4_uc011cgp.1_Silent_p.A1528A|FAT4_uc003ifi.1_Silent_p.A708A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3230	Cadherin 31.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTGTGATTGCGTATACTGTAC	0.428												
HSPA4L	22824	broad.mit.edu	37	4	128748490	128748490	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:128748490A>G	uc003ifm.2	+	17	2330	c.2077A>G	c.(2077-2079)ATG>GTG	p.M693V	HSPA4L_uc011cgr.1_Missense_Mutation_p.M660V	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	693					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						AATGAAGTACATGGAGCATGA	0.323												
PHF17	79960	broad.mit.edu	37	4	129783281	129783281	+	Silent	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:129783281C>A	uc003igk.2	+	9	1684	c.1404C>A	c.(1402-1404)ACC>ACA	p.T468T	PHF17_uc003igj.2_Silent_p.T468T|PHF17_uc003igl.2_Silent_p.T456T|PHF17_uc011cgy.1_Silent_p.T468T|PHF17_uc003igm.2_Silent_p.T468T	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	468					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0						CCCTGATCACCCCAAAGAAAG	0.537												
CCRN4L	25819	broad.mit.edu	37	4	139966465	139966465	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:139966465A>G	uc003ihl.2	+	3	1326	c.1133A>G	c.(1132-1134)TAC>TGC	p.Y378C		NM_012118	NP_036250	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like	378					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_hematologic(180;0.162)					ACCCTGGATTACATCTGGTAT	0.498												
HHIP	64399	broad.mit.edu	37	4	145629358	145629358	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:145629358C>G	uc003ijs.1	+	7	1851	c.1196C>G	c.(1195-1197)ACA>AGA	p.T399R		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	399						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GATGTGGACACAGACATGTGC	0.463												
NR3C2	4306	broad.mit.edu	37	4	149035413	149035413	+	Splice_Site	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:149035413C>A	uc003ilj.3	-	8	2976	c.2642_splice	c.e8-1	p.I881_splice	NR3C2_uc003ilk.3_Splice_Site_p.I764_splice|NR3C2_uc010iph.2_Splice_Site	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TCCTTTGGAACTGTGTTAAGG	0.373												
TKTL2	84076	broad.mit.edu	37	4	164394017	164394017	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:164394017T>C	uc003iqp.3	-	1	1031	c.870A>G	c.(868-870)CCA>CCG	p.P290P		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	290						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGGCGATTTTGGTATGAGAT	0.284												
ADAM29	11086	broad.mit.edu	37	4	175898280	175898280	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:175898280G>A	uc003iuc.2	+	5	2274	c.1604G>A	c.(1603-1605)GGT>GAT	p.G535D	ADAM29_uc003iud.2_Missense_Mutation_p.G535D|ADAM29_uc010irr.2_Missense_Mutation_p.G535D|ADAM29_uc011cki.1_Missense_Mutation_p.G535D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	535	Cys-rich.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGTCACTGTGGTATCAAAAAT	0.393												
ODZ3	55714	broad.mit.edu	37	4	183658156	183658156	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:183658156T>G	uc003ivd.1	+	16	3200	c.3163T>G	c.(3163-3165)TTG>GTG	p.L1055V	ODZ3_uc003ive.1_Missense_Mutation_p.L461V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1055	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTCACCAAACTTGGCCTATAC	0.373												
MTNR1A	4543	broad.mit.edu	37	4	187455686	187455686	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:187455686C>T	uc003izd.1	-	2	228	c.210G>A	c.(208-210)GCG>GCA	p.A70A		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	70	Helical; Name=2; (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GGTCTGCCACCGCTAAGCTCA	0.458												
SLC12A7	10723	broad.mit.edu	37	5	1052501	1052501	+	Missense_Mutation	SNP	G	G	A	rs145103734		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:1052501G>A	uc003jbu.2	-	24	3292	c.3226C>T	c.(3226-3228)CGG>TGG	p.R1076W		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	1076	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATCACCTCCCGGCCGCCACCC	0.607												
SLC12A7	10723	broad.mit.edu	37	5	1081737	1081737	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:1081737C>T	uc003jbu.2	-	9	1318	c.1252G>A	c.(1252-1254)GCC>ACC	p.A418T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	418	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTGAAGGAGGCCGCGATGTCG	0.552												
SLC6A19	340024	broad.mit.edu	37	5	1212545	1212545	+	Silent	SNP	C	C	T	rs149582176		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:1212545C>T	uc003jbw.3	+	4	665	c.609C>T	c.(607-609)TGC>TGT	p.C203C		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	203	Helical; Name=4; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCTGGCCTGCGCATGGAGCG	0.642												
FASTKD3	79072	broad.mit.edu	37	5	7861317	7861317	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:7861317C>T	uc003jeb.2	-	6	1966	c.1829G>A	c.(1828-1830)GGG>GAG	p.G610E	FASTKD3_uc011cmp.1_Missense_Mutation_p.G312E|FASTKD3_uc003jec.2_RNA	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	610	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						AGCTTCTTTCCCCAGTAAGTG	0.323												
FASTKD3	79072	broad.mit.edu	37	5	7868079	7868079	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:7868079G>A	uc003jeb.2	-	2	255	c.118C>T	c.(118-120)CGT>TGT	p.R40C	FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	40					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						GGGCACAGACGCTCCTTGACT	0.408												
SEMA5A	9037	broad.mit.edu	37	5	9054362	9054362	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:9054362G>A	uc003jek.2	-	19	3238	c.2526C>T	c.(2524-2526)GGC>GGT	p.G842G		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	842	TSP type-1 6.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						AAGACCACACGCCATCCACTG	0.493												
DNAH5	1767	broad.mit.edu	37	5	13700841	13700841	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:13700841C>T	uc003jfd.2	-	78	13673	c.13631G>A	c.(13630-13632)GGC>GAC	p.G4544D	DNAH5_uc003jfc.2_Missense_Mutation_p.G712D	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4544					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)					CTTGTCCCAGCCAGCACCTTC	0.428									Kartagener_syndrome			
PTGER4	5734	broad.mit.edu	37	5	40692308	40692308	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:40692308G>A	uc003jlz.2	+	3	1887	c.1295G>A	c.(1294-1296)AGG>AAG	p.R432K		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	432	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						ACCTCACTGAGGACTTTGCGA	0.577												
MIER3	166968	broad.mit.edu	37	5	56219756	56219756	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:56219756A>G	uc003jrd.1	-	11	1063	c.1038T>C	c.(1036-1038)CAT>CAC	p.H346H	MIER3_uc003jqz.1_Silent_p.H283H|MIER3_uc003jra.1_Silent_p.H345H|MIER3_uc003jrb.1_Silent_p.H170H|MIER3_uc003jrc.1_Silent_p.H351H	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CTCCAGGGTGATGGTTATATC	0.368												
CD180	4064	broad.mit.edu	37	5	66478959	66478959	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:66478959G>A	uc003juy.2	-	3	1860	c.1712C>T	c.(1711-1713)ACC>ATC	p.T571I		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	571	Extracellular (Potential).				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TAAATTAATGGTGCTCTGCTG	0.453												
CD180	4064	broad.mit.edu	37	5	66480342	66480342	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:66480342C>T	uc003juy.2	-	3	477	c.329G>A	c.(328-330)GGA>GAA	p.G110E		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	110	LRR 3.|Extracellular (Potential).				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CAGGGGATTTCCAGTTAACAC	0.368												
RASA1	5921	broad.mit.edu	37	5	86672770	86672770	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:86672770G>A	uc003kiw.2	+	17	2375	c.2257G>A	c.(2257-2259)GCC>ACC	p.A753T	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.A576T|RASA1_uc011ctv.1_Missense_Mutation_p.A586T|RASA1_uc011ctw.1_Missense_Mutation_p.A587T|RASA1_uc010jaw.2_Missense_Mutation_p.A575T	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	753	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AACACTACTGGCCAGCATCCT	0.373												
APC	324	broad.mit.edu	37	5	112178333	112178333	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:112178333A>G	uc010jby.2	+	16	7422	c.7042A>G	c.(7042-7044)ACA>GCA	p.T2348A	APC_uc011cvt.1_Missense_Mutation_p.T2330A|APC_uc003kpz.3_Missense_Mutation_p.T2348A|APC_uc003kpy.3_Missense_Mutation_p.T2348A|APC_uc010jbz.2_Missense_Mutation_p.T2065A|APC_uc010jca.2_Missense_Mutation_p.T1648A	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2348	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACTTCCAAGGACATCATCCCC	0.423		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
SRP19	6728	broad.mit.edu	37	5	112227455	112227455	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:112227455T>G	uc011cvv.1	+	4	449	c.194T>G	c.(193-195)CTT>CGT	p.L65R	SRP19_uc011cvu.1_Missense_Mutation_p.L50R|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		CGGCAGGAACTTGCTCGACTG	0.463												
CDKL3	51265	broad.mit.edu	37	5	133644013	133644013	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:133644013T>C	uc003kzf.3	-	9	1299	c.1180A>G	c.(1180-1182)ATG>GTG	p.M394V	CDKL3_uc011cxm.1_Missense_Mutation_p.M201V|CDKL3_uc011cxn.1_RNA|CDKL3_uc010jdw.2_Missense_Mutation_p.M1V|CDKL3_uc011cxo.1_Missense_Mutation_p.M99V|CDKL3_uc011cxp.1_Missense_Mutation_p.M99V|CDKL3_uc011cxq.1_Missense_Mutation_p.M201V|CDKL3_uc003kzg.3_Missense_Mutation_p.M394V	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3 isoform 1	394						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGGAGACATAGGATGAACA	0.393												
PCDHA6	56142	broad.mit.edu	37	5	140209182	140209182	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140209182C>T	uc003lho.2	+	1	1533	c.1506C>T	c.(1504-1506)CGC>CGT	p.R502R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.R502R|PCDHA6_uc011dab.1_Silent_p.R502R	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	502	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGAGCGCGCGTTGTCGA	0.672												
PCDHA7	56141	broad.mit.edu	37	5	140214268	140214268	+	Silent	SNP	G	G	A	rs151308899		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140214268G>A	uc003lhq.2	+	1	300	c.300G>A	c.(298-300)GCG>GCA	p.A100A	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.A100A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	100	Cadherin 1.|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)			GGCGGAGCGCGGAGTGCAGCA	0.557												
PCDHA8	56140	broad.mit.edu	37	5	140223021	140223021	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140223021C>T	uc003lhs.2	+	1	2115	c.2115C>T	c.(2113-2115)TGC>TGT	p.C705C	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_uc003lhr.1_Silent_p.C705C	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	705	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCCATCTGCGCGGTATCCA	0.662												
PCDHA11	56138	broad.mit.edu	37	5	140250465	140250465	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140250465G>A	uc003lia.2	+	1	2635	c.1777G>A	c.(1777-1779)GTG>ATG	p.V593M	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_uc011dae.1_Missense_Mutation_p.V593M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	593	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGAAGGTGCGCGCAGT	0.682												
PCDHB13	56123	broad.mit.edu	37	5	140595915	140595915	+	Silent	SNP	C	C	T	rs141051000		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140595915C>T	uc003lja.1	+	1	2407	c.2220C>T	c.(2218-2220)AGC>AGT	p.S740S		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	740	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACATGAGCGGCACCAGGA	0.617												
PCDHGA5	56110	broad.mit.edu	37	5	140746310	140746310	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140746310C>T	uc003lju.1	+	1	2413	c.2413C>T	c.(2413-2415)CGA>TGA	p.R805*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Nonsense_Mutation_p.R805*	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	805	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R805*(1)		ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGAACGGCGAGTTCAGGT	0.418												
PCDHGB3	56102	broad.mit.edu	37	5	140750133	140750133	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140750133G>A	uc003ljw.1	+	1	172	c.172G>A	c.(172-174)GTG>ATG	p.V58M	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_uc011dat.1_Missense_Mutation_p.V58M	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	58	Extracellular (Potential).|Cadherin 1.				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)			GGGGTTTGGCGTGGGGGATTT	0.547												
PCDHGB6	56100	broad.mit.edu	37	5	140789324	140789324	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140789324G>A	uc003lkj.1	+	1	1555	c.1555G>A	c.(1555-1557)GCC>ACC	p.A519T	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_uc003lki.1_Missense_Mutation_p.A519T	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	519	Extracellular (Potential).|Cadherin 5.				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)			CGCGCAGCGCGCCTTTGATCA	0.667												
PCDHGB6	56100	broad.mit.edu	37	5	140789386	140789386	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140789386G>A	uc003lkj.1	+	1	1617	c.1617G>A	c.(1615-1617)TCG>TCA	p.S539S	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_uc003lki.1_Silent_p.S539S	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	539	Extracellular (Potential).|Cadherin 5.				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)			ACCACGGCTCGCCCACGCTCA	0.701												
PCDHGA10	56106	broad.mit.edu	37	5	140793850	140793850	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140793850G>A	uc003lkl.1	+	1	1108	c.1108G>A	c.(1108-1110)GTA>ATA	p.V370I	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.V370I	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	370	Cadherin 4.|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)			GGGAACAGTCGTAGCCCTTTT	0.403												
PCDHGC3	5098	broad.mit.edu	37	5	140856242	140856242	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140856242C>T	uc003lkv.1	+	1	674	c.559C>T	c.(559-561)CGG>TGG	p.R187W	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_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.R187W|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	187	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCAGACGCGGGAGGACAG	0.597												
DIAPH1	1729	broad.mit.edu	37	5	140908744	140908744	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:140908744C>T	uc003llb.3	-	22	2914	c.2773G>A	c.(2773-2775)GTG>ATG	p.V925M	DIAPH1_uc011dbd.1_5'Flank|DIAPH1_uc003llc.3_Missense_Mutation_p.V916M|DIAPH1_uc010jgc.1_Missense_Mutation_p.V361M	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	925	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCACCACGCCAAACTGC	0.512												
LARS	51520	broad.mit.edu	37	5	145552290	145552290	+	Missense_Mutation	SNP	C	C	T	rs148510496	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:145552290C>T	uc003lnx.1	-	3	411	c.173G>A	c.(172-174)CGC>CAC	p.R58H	LARS_uc011dbq.1_Missense_Mutation_p.R58H|LARS_uc011dbr.1_Missense_Mutation_p.R4H|LARS_uc011dbs.1_Missense_Mutation_p.R58H	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	58	HIGH region.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAAATGAAGGCGTCCATTCAT	0.348												
ADRB2	154	broad.mit.edu	37	5	148206748	148206748	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:148206748G>A	uc003lpr.1	+	1	593	c.354G>A	c.(352-354)ACG>ACA	p.T118T	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	118	Helical; Name=3.	Agonist or antagonist.			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)	TGTGCGTCACGGCCAGCATTG	0.522												
FAT2	2196	broad.mit.edu	37	5	150934154	150934154	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:150934154A>T	uc003lue.3	-	4	3727	c.3714T>A	c.(3712-3714)AAT>AAA	p.N1238K	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1238	Extracellular (Potential).|Cadherin 10.				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)			ATATAGGTGGATTGTCATTGA	0.562												
CCNJL	79616	broad.mit.edu	37	5	159680577	159680577	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:159680577C>T	uc003lyb.1	-	7	1368	c.1116G>A	c.(1114-1116)GGG>GGA	p.G372G	CCNJL_uc011dee.1_Silent_p.G324G|CCNJL_uc003lyc.1_RNA	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	372						nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCCTGTACTCCCCGAGAGCA	0.627												
ODZ2	57451	broad.mit.edu	37	5	167489118	167489118	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:167489118C>T	uc010jjd.2	+	7	1363	c.1363C>T	c.(1363-1365)CGG>TGG	p.R455W	ODZ2_uc003lzq.2_Missense_Mutation_p.R334W|ODZ2_uc003lzr.3_Missense_Mutation_p.R223W	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGAAGTTGGTCGGCGGGTAAC	0.458												
C5orf41	153222	broad.mit.edu	37	5	172513527	172513527	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:172513527G>A	uc003mch.2	+	3	337	c.33G>A	c.(31-33)CCG>CCA	p.P11P	C5orf41_uc003mcg.2_Silent_p.P11P|C5orf41_uc003mcf.2_Silent_p.P11P|C5orf41_uc011dfd.1_Silent_p.P11P	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	11							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAATGGATCCGCCTTTCGGGG	0.428												
CDHR2	54825	broad.mit.edu	37	5	176018287	176018287	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:176018287C>A	uc003mem.1	+	29	3682	c.3616C>A	c.(3616-3618)CCT>ACT	p.P1206T	CDHR2_uc003men.1_Missense_Mutation_p.P1206T	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	1206	Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						GCCCTCAGCCCCTGCCATCCC	0.602												
NSD1	64324	broad.mit.edu	37	5	176687028	176687028	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:176687028C>T	uc003mfr.3	+	14	5143	c.5005C>T	c.(5005-5007)CAC>TAC	p.H1669Y	NSD1_uc003mft.3_Missense_Mutation_p.H1400Y|NSD1_uc003mfs.1_Missense_Mutation_p.H1566Y|NSD1_uc011dfx.1_Missense_Mutation_p.H1317Y	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1669					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)		TGTGGCATACCACGCCAATGA	0.448			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
DBN1	1627	broad.mit.edu	37	5	176885640	176885640	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:176885640C>T	uc003mgy.2	-	12	1367	c.1195G>A	c.(1195-1197)GGC>AGC	p.G399S	DBN1_uc011dga.1_Missense_Mutation_p.G131S|DBN1_uc003mgx.2_Missense_Mutation_p.G401S|DBN1_uc010jkn.1_Missense_Mutation_p.G349S|DBN1_uc003mgz.1_Missense_Mutation_p.G382S	NM_004395	NP_004386	Q16643	DREB_HUMAN	drebrin 1 isoform a	399					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|ovary(1)|lung(1)|skin(1)	6	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			TCCATGGGGCCGGCCCAGGCC	0.652												
ZNF354A	6940	broad.mit.edu	37	5	178139186	178139186	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:178139186G>A	uc003mjj.2	-	5	1891	c.1693C>T	c.(1693-1695)CGT>TGT	p.R565C		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	565	C2H2-type 12.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TGTGCAATACGTGATGAGCTT	0.358												
ADAMTS2	9509	broad.mit.edu	37	5	178540988	178540988	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:178540988A>G	uc003mjw.2	-	22	3516	c.3516T>C	c.(3514-3516)GAT>GAC	p.D1172D	uc003mjv.3_5'Flank	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1172					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)		GCTGGACTTCATCTTCCAGGC	0.517												
FLT4	2324	broad.mit.edu	37	5	180055888	180055888	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:180055888A>G	uc003mma.3	-	8	1176	c.1097T>C	c.(1096-1098)TTC>TCC	p.F366S	FLT4_uc003mlz.3_Missense_Mutation_p.F366S|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.F366S|FLT4_uc011dgz.1_3'UTR	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	366	Ig-like C2-type 4.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTACCACTGGAACTCGGGCGG	0.652									Congenital_Hereditary_Lymphedema			
FAM50B	26240	broad.mit.edu	37	6	3850409	3850409	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:3850409T>G	uc003mvu.2	+	2	476	c.364T>G	c.(364-366)TTT>GTT	p.F122V		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	122						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CTGCCTGTCCTTTGCACTAGA	0.517												
NEDD9	4739	broad.mit.edu	37	6	11185718	11185718	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:11185718C>T	uc003mzv.2	-	7	2349	c.2182G>A	c.(2182-2184)GCA>ACA	p.A728T	NEDD9_uc010joz.2_Missense_Mutation_p.A728T|NEDD9_uc003mzw.3_Missense_Mutation_p.A582T	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	728	Divergent helix-loop-helix motif.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CTGAAGAGTGCGTCAATGGCG	0.517												
LRRC16A	55604	broad.mit.edu	37	6	25492198	25492198	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:25492198G>A	uc011djw.1	+	15	1542	c.1166G>A	c.(1165-1167)GGA>GAA	p.G389E	LRRC16A_uc010jpx.2_Missense_Mutation_p.G389E|LRRC16A_uc010jpy.2_Missense_Mutation_p.G389E	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	389					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						CTTCTCCGTGGATGCCTTCAA	0.418												
SLC17A2	10246	broad.mit.edu	37	6	25924033	25924033	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:25924033C>T	uc011dkb.1	-	2	213	c.130G>A	c.(130-132)GCC>ACC	p.A44T	SLC17A2_uc011dkc.1_Missense_Mutation_p.A44T|SLC17A2_uc003nfl.2_Missense_Mutation_p.A44T			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	44					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						TTCACCATGGCGATGATCGCA	0.478												
HIST1H3E	8353	broad.mit.edu	37	6	26225388	26225388	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:26225388G>A	uc003nhb.2	+	2	366	c.6G>A	c.(4-6)GCG>GCA	p.A2A	HIST1H3E_uc003nhc.3_Silent_p.A2A	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	2					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GAACTATGGCGCGTACTAAGC	0.532												
BTN3A1	11119	broad.mit.edu	37	6	26413715	26413715	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:26413715A>C	uc003nhv.2	+	10	1705	c.1337A>C	c.(1336-1338)GAG>GCG	p.E446A	BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Missense_Mutation_p.E394A|BTN3A1_uc010jqj.2_3'UTR	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	446	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						ACTCTAACTGAGCCCAGAACC	0.468												
HIST1H2AL	8332	broad.mit.edu	37	6	27833264	27833264	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:27833264C>T	uc003njw.2	+	1	158	c.132C>T	c.(130-132)GTC>GTT	p.V44V		NM_003511	NP_003502	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	44					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						CTGAGCGGGTCGGGGCCGGCG	0.692												
NKAPL	222698	broad.mit.edu	37	6	28227239	28227239	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:28227239G>A	uc003nkt.2	+	1	142	c.90G>A	c.(88-90)CCG>CCA	p.P30P	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	30										upper_aerodigestive_tract(1)|ovary(1)	2						CACCATCCCCGCAGAGCAGAT	0.657												
TRIM10	10107	broad.mit.edu	37	6	30121851	30121851	+	Silent	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:30121851A>C	uc003npo.3	-	7	1417	c.1341T>G	c.(1339-1341)GCT>GCG	p.A447A	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	447	B30.2/SPRY.					cytoplasm	zinc ion binding				0						CTCGGGTGACAGCGTTGGTGA	0.607												
PPP1R10	5514	broad.mit.edu	37	6	30572415	30572415	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:30572415C>T	uc003nqn.1	-	12	1604	c.1052G>A	c.(1051-1053)CGT>CAT	p.R351H	PPP1R10_uc010jsc.1_Missense_Mutation_p.R5H	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	351					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						GGTGCCTGGACGGTCTGCGTC	0.542												
TUBB	203068	broad.mit.edu	37	6	30692147	30692147	+	Silent	SNP	C	C	T	rs3873307		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:30692147C>T	uc003nrl.2	+	4	1435	c.1308C>T	c.(1306-1308)TTC>TTT	p.F436F	TUBB_uc003nrk.1_Missense_Mutation_p.R430W|TUBB_uc011dmq.1_Silent_p.F364F	NM_178014	NP_821133	P07437	TBB5_HUMAN	tubulin, beta	436					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			ovary(1)	1					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	AGGAGGATTTCGGTGAGGAGG	0.572												
DDR1	780	broad.mit.edu	37	6	30865936	30865936	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:30865936C>T	uc003nrr.2	+	17	2562	c.2303C>T	c.(2302-2304)GCC>GTC	p.A768V	DDR1_uc010jse.2_Missense_Mutation_p.A731V|DDR1_uc003nrq.2_Missense_Mutation_p.A731V|DDR1_uc003nrs.2_Missense_Mutation_p.A768V|DDR1_uc003nrt.2_Missense_Mutation_p.A731V|DDR1_uc011dms.1_Missense_Mutation_p.A749V|DDR1_uc003nru.2_Missense_Mutation_p.A731V|DDR1_uc003nrv.2_Missense_Mutation_p.A774V|DDR1_uc003nrw.1_Missense_Mutation_p.A503V|DDR1_uc003nrz.1_Missense_Mutation_p.A93V	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	768	Cytoplasmic (Potential).|Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	CGGGACCTGGCCACGCGGAAC	0.562												
C6orf25	80739	broad.mit.edu	37	6	31691611	31691611	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:31691611C>G	uc011doc.1	+	2	257	c.257C>G	c.(256-258)TCC>TGC	p.S86C	LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Missense_Mutation_p.S86C|C6orf25_uc011dod.1_Missense_Mutation_p.S86C|C6orf25_uc011doe.1_Missense_Mutation_p.S86C|C6orf25_uc003nwo.2_Missense_Mutation_p.S86C|C6orf25_uc003nwn.2_Missense_Mutation_p.S86C	NM_138272	NP_612116	O95866	G6B_HUMAN	G6B protein isoform G6b-B precursor	86	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity				0						CGCCTACGCTCCCTGGACTCT	0.672												
VARS	7407	broad.mit.edu	37	6	31752401	31752401	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:31752401T>C	uc003nxe.2	-	11	1861	c.1438A>G	c.(1438-1440)ACC>GCC	p.T480A	VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	480					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	GAGTTGAGGGTGCAGGACCAG	0.612												
TNXB	7148	broad.mit.edu	37	6	32037632	32037632	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:32037632C>T	uc003nzl.2	-	15	5487	c.5285G>A	c.(5284-5286)CGG>CAG	p.R1762Q		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1844					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CATAGCACTCCGGGCTTCTGA	0.597												
NOTCH4	4855	broad.mit.edu	37	6	32190542	32190542	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:32190542T>C	uc003obb.2	-	3	336	c.197A>G	c.(196-198)GAC>GGC	p.D66G	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.D66G	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	66	Extracellular (Potential).|EGF-like 2.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CTGGCAGGGGTCAGGAAACTG	0.562												
ITPR3	3710	broad.mit.edu	37	6	33654203	33654203	+	Silent	SNP	C	C	T	rs145776727	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:33654203C>T	uc011drk.1	+	43	6105	c.5886C>T	c.(5884-5886)CAC>CAT	p.H1962H	ITPR3_uc003oey.2_Silent_p.H49H	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1962	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TTGTGACTCACGAGTCCAATG	0.592												
UHRF1BP1	54887	broad.mit.edu	37	6	34825955	34825955	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:34825955C>A	uc003oju.3	+	14	2056	c.1822C>A	c.(1822-1824)CTT>ATT	p.L608I	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	608										ovary(3)	3						TCCCCAGGCCCTTGTCTTCTC	0.498												
ETV7	51513	broad.mit.edu	37	6	36334731	36334731	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:36334731C>T	uc003omb.2	-	7	978	c.829G>A	c.(829-831)GAG>AAG	p.E277K	ETV7_uc003olz.1_Missense_Mutation_p.E277K|ETV7_uc003oma.1_Missense_Mutation_p.E222K|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Missense_Mutation_p.E222K|ETV7_uc010jwj.2_Missense_Mutation_p.E218K|ETV7_uc010jwh.2_Missense_Mutation_p.E196K|ETV7_uc010jwi.2_Missense_Mutation_p.E200K|ETV7_uc011dtl.1_Missense_Mutation_p.E126K	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	277	ETS.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GACATCTTCTCGTAGGTCATG	0.542												
CUL7	9820	broad.mit.edu	37	6	43020511	43020511	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:43020511G>A	uc003otq.2	-	2	319	c.16C>T	c.(16-18)CGC>TGC	p.R6C	CUL7_uc011dvb.1_Missense_Mutation_p.R58C|CUL7_uc010jyh.2_5'UTR|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	6					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCCTGTAGCGGAGTTCTCCC	0.562												
VEGFA	7422	broad.mit.edu	37	6	43745279	43745279	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:43745279G>A	uc003owc.2	+	3	1223	c.192G>A	c.(190-192)GAG>GAA	p.E64E	VEGFA_uc003owb.2_Silent_p.E64E|VEGFA_uc003owd.2_Silent_p.E244E|VEGFA_uc003owf.2_Silent_p.E244E|VEGFA_uc003owe.2_Silent_p.E244E|VEGFA_uc003owg.2_Silent_p.E244E|VEGFA_uc003owh.2_Silent_p.E244E|VEGFA_uc003owi.2_Silent_p.E244E|VEGFA_uc003owj.2_Silent_p.E244E|VEGFA_uc010jyx.2_Silent_p.E64E|VEGFA_uc003owk.2_5'Flank	NM_001025370	NP_001020541	P15692	VEGFA_HUMAN	vascular endothelial growth factor A isoform f	64					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			ovary(1)|breast(1)	2	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	TCTTCCAGGAGTACCCTGATG	0.562												
ENPP5	59084	broad.mit.edu	37	6	46135200	46135200	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:46135200G>T	uc003oxz.1	-	2	1008	c.800C>A	c.(799-801)TCT>TAT	p.S267Y	ENPP5_uc003oya.1_Missense_Mutation_p.S267Y|ENPP5_uc011dvz.1_Missense_Mutation_p.S173Y|ENPP5_uc010jzc.1_Missense_Mutation_p.S267Y	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	267						extracellular region|integral to membrane	hydrolase activity				0						TGCTACTGGAGATTGATCAAT	0.443												
HMGCLL1	54511	broad.mit.edu	37	6	55406583	55406583	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:55406583T>C	uc003pcn.2	-	4	490	c.331A>G	c.(331-333)ACT>GCT	p.T111A	HMGCLL1_uc003pco.2_Missense_Mutation_p.T81A|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.T81A|HMGCLL1_uc011dxd.1_Missense_Mutation_p.T81A|HMGCLL1_uc011dxe.1_Missense_Mutation_p.T81A|HMGCLL1_uc003pcp.2_Missense_Mutation_p.T81A	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	111							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GACAAGCCAGTTTGGGAAAGT	0.308												
KHDRBS2	202559	broad.mit.edu	37	6	62887150	62887150	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:62887150G>A	uc003peg.2	-	2	406	c.159C>T	c.(157-159)ATC>ATT	p.I53I		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTTTGTTGCTGATGACATCAA	0.328												
ZNF292	23036	broad.mit.edu	37	6	87965771	87965771	+	Silent	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:87965771T>G	uc003plm.3	+	8	2465	c.2424T>G	c.(2422-2424)ACT>ACG	p.T808T		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	808	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATACGTACACTTGTAAGTTCA	0.378												
ZNF292	23036	broad.mit.edu	37	6	87967537	87967537	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:87967537G>A	uc003plm.3	+	8	4231	c.4190G>A	c.(4189-4191)CGA>CAA	p.R1397Q		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1397	C2H2-type 8; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TTATCCAAGCGATCTTACTGT	0.443												
ZNF292	23036	broad.mit.edu	37	6	87968758	87968758	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:87968758A>G	uc003plm.3	+	8	5452	c.5411A>G	c.(5410-5412)AAC>AGC	p.N1804S		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1804					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTGCAAAATAACAAATTACCC	0.363												
MDN1	23195	broad.mit.edu	37	6	90382364	90382364	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:90382364G>A	uc003pnn.1	-	81	13648	c.13532C>T	c.(13531-13533)GCC>GTC	p.A4511V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4511					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGCTCGGATGGCAATTTCCAT	0.408												
MDN1	23195	broad.mit.edu	37	6	90433306	90433306	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:90433306C>A	uc003pnn.1	-	39	5819	c.5703G>T	c.(5701-5703)ATG>ATT	p.M1901I		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1901					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAATGAACTCCATGTCAATTA	0.348												
ASCC3	10973	broad.mit.edu	37	6	101037585	101037585	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:101037585C>T	uc003pqk.2	-	36	5804	c.5475G>A	c.(5473-5475)AAG>AAA	p.K1825K		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1825	SEC63 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)		CTGTTTGATGCTTCAAATAGT	0.348												
ASCC3	10973	broad.mit.edu	37	6	101100601	101100601	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:101100601C>A	uc003pqk.2	-	18	3317	c.2988G>T	c.(2986-2988)GAG>GAT	p.E996D	ASCC3_uc011eai.1_Missense_Mutation_p.E898D	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	996	SEC63 1.				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)		AGTATAATACCTCAATGGTGT	0.294												
FIG4	9896	broad.mit.edu	37	6	110037748	110037748	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:110037748C>T	uc003ptt.2	+	3	481	c.266C>T	c.(265-267)GCG>GTG	p.A89V	FIG4_uc011eau.1_Intron	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	89					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TTATTTCGAGCGGTTTCAGCT	0.413												
C6orf204	387119	broad.mit.edu	37	6	118953732	118953732	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:118953732A>C	uc003pxz.1	-	2	704	c.116T>G	c.(115-117)TTG>TGG	p.L39W	C6orf204_uc003pya.1_Missense_Mutation_p.L42W|C6orf204_uc003pyb.2_Missense_Mutation_p.L39W|C6orf204_uc011ebj.1_Translation_Start_Site|C6orf204_uc003pyc.2_Missense_Mutation_p.L42W|C6orf204_uc011ebl.1_Translation_Start_Site	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	39						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		GGCCTGCCACAATGATTCATT	0.408												
MAN1A1	4121	broad.mit.edu	37	6	119569513	119569513	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:119569513G>A	uc003pym.1	-	6	1346	c.904C>T	c.(904-906)CGA>TGA	p.R302*	MAN1A1_uc010kei.1_Nonsense_Mutation_p.R325*	NM_005907	NP_005898	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	302	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCTTTCTTTCGAAAAATCTGA	0.348												
ECHDC1	55862	broad.mit.edu	37	6	127651955	127651955	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:127651955T>C	uc003qax.2	-	2	273	c.237A>G	c.(235-237)TCA>TCG	p.S79S	ECHDC1_uc003qaz.3_Silent_p.S73S|ECHDC1_uc010key.2_Intron|ECHDC1_uc003qay.3_Silent_p.S73S|ECHDC1_uc010kez.2_Intron|ECHDC1_uc010kex.2_RNA	NM_001139510	NP_001132982	Q9NTX5	ECHD1_HUMAN	enoyl Coenzyme A hydratase domain containing 1	79							catalytic activity				0				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		CCCTAATACCTGAAAAGGCAT	0.308												
HBS1L	10767	broad.mit.edu	37	6	135318743	135318743	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:135318743C>T	uc003qez.2	-	6	798	c.591G>A	c.(589-591)CCG>CCA	p.P197P	HBS1L_uc003qey.2_Silent_p.P33P|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Silent_p.P33P|HBS1L_uc011eda.1_Silent_p.P155P	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	197					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CTTCAATGGGCGGTCCTTTTT	0.413												
MYB	4602	broad.mit.edu	37	6	135507123	135507123	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:135507123C>T	uc003qfc.2	+	2	305	c.106C>T	c.(106-108)CGT>TGT	p.R36C	MYB_uc003qfh.2_Missense_Mutation_p.R36C|MYB_uc003qfi.2_Missense_Mutation_p.R36C|MYB_uc010kgi.2_Missense_Mutation_p.R36C|MYB_uc003qfq.2_Missense_Mutation_p.R36C|MYB_uc010kgj.2_Missense_Mutation_p.R36C|MYB_uc003qfo.2_Missense_Mutation_p.R36C|MYB_uc003qfu.2_Missense_Mutation_p.R36C|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_5'UTR|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.R36C|MYB_uc003qgd.1_5'Flank	NM_005375	NP_005366	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	36	HTH myb-type 1.				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GTCTGGAAAGCGTCACTTGGG	0.398			T	NFIB	adenoid cystic carcinoma							
SLC35D3	340146	broad.mit.edu	37	6	137245806	137245806	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:137245806T>C	uc003qhe.2	+	2	1388	c.1223T>C	c.(1222-1224)ATA>ACA	p.I408T		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	408					carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GATTATTTGATAGAAAACGAG	0.423												
MTHFD1L	25902	broad.mit.edu	37	6	151209072	151209072	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:151209072C>T	uc003qob.2	+	7	1003	c.735C>T	c.(733-735)TCC>TCT	p.S245S	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Silent_p.S246S|MTHFD1L_uc003qoc.2_Silent_p.S193S|MTHFD1L_uc003qoa.1_Silent_p.S245S|MTHFD1L_uc010kil.1_RNA	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	245	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GAAAAGGGTCCATGACAATGA	0.383												
SYNE1	23345	broad.mit.edu	37	6	152680514	152680514	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:152680514T>C	uc010kiw.2	-	65	10981	c.10379A>G	c.(10378-10380)TAT>TGT	p.Y3460C	SYNE1_uc003qot.3_Missense_Mutation_p.Y3467C|SYNE1_uc003qou.3_Missense_Mutation_p.Y3460C|SYNE1_uc010kja.1_Missense_Mutation_p.Y165C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3460	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)		CTGGGTGACATAGTGTTCTGT	0.458										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152749388	152749388	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:152749388G>A	uc010kiw.2	-	37	5530	c.4928C>T	c.(4927-4929)GCG>GTG	p.A1643V	SYNE1_uc003qot.3_Missense_Mutation_p.A1650V|SYNE1_uc003qou.3_Missense_Mutation_p.A1643V|SYNE1_uc010kjb.1_Missense_Mutation_p.A1626V|SYNE1_uc003qow.2_Missense_Mutation_p.A938V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1643	Spectrin 1.|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)		TCTCTCCTTCGCCCTCCTTAG	0.537										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152831394	152831394	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:152831394A>G	uc010kiw.2	-	8	1117	c.515T>C	c.(514-516)GTG>GCG	p.V172A	SYNE1_uc003qot.3_Missense_Mutation_p.V179A|SYNE1_uc003qou.3_Missense_Mutation_p.V172A|SYNE1_uc010kjb.1_Missense_Mutation_p.V172A|SYNE1_uc003qpa.1_Missense_Mutation_p.V172A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	172	Actin-binding.|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)		CTTGGTGGTCACCTTCCGTTT	0.488										HNSCC(10;0.0054)		
C6orf118	168090	broad.mit.edu	37	6	165715776	165715776	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:165715776T>G	uc003qum.3	-	2	71	c.35A>C	c.(34-36)AAG>ACG	p.K12T	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	12											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GTGCTTCCACTTCAGGTACAC	0.532												
T	6862	broad.mit.edu	37	6	166580221	166580221	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:166580221C>T	uc003quu.1	-	3	823	c.330G>A	c.(328-330)GTG>GTA	p.V110V	T_uc003qut.1_Silent_p.V110V|T_uc003quv.1_Silent_p.V110V	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	110	T-box.				anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGCCCCCCGGCACCCATTCCC	0.657									Chordoma_Familial_Clustering_of			
UNC93A	54346	broad.mit.edu	37	6	167721272	167721272	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:167721272G>A	uc003qvq.2	+	7	1157	c.982G>A	c.(982-984)GTG>ATG	p.V328M	UNC93A_uc003qvr.2_Missense_Mutation_p.V286M	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	328	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCCAGGCGCGGTGACCCACGT	0.622												
DLL1	28514	broad.mit.edu	37	6	170597536	170597536	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:170597536G>A	uc003qxm.2	-	4	931	c.461C>T	c.(460-462)ACG>ATG	p.T154M	DLL1_uc011ehc.1_Missense_Mutation_p.T154M|DLL1_uc003qxn.3_3'UTR	NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	154	Extracellular (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTCGCCCACCGTCAGGTGCCT	0.607												
C7orf27	221927	broad.mit.edu	37	7	2578167	2578167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:2578167G>A	uc003smi.2	-	14	2044	c.2002C>T	c.(2002-2004)CCG>TCG	p.P668S	C7orf27_uc003smh.3_Missense_Mutation_p.P100S	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	668					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		GTACGCGGCGGCCCCAAAGTC	0.716												
CARD11	84433	broad.mit.edu	37	7	2962848	2962848	+	Missense_Mutation	SNP	G	G	A	rs41493047	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:2962848G>A	uc003smv.2	-	16	2464	c.2060C>T	c.(2059-2061)GCG>GTG	p.A687V		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	687	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)		GCTCCCTCGCGCGTTGCCCCC	0.697			Mis		DLBCL							
KIAA0415	9907	broad.mit.edu	37	7	4830444	4830444	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:4830444T>C	uc003sne.2	+	16	2162	c.2079T>C	c.(2077-2079)TGT>TGC	p.C693C	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Silent_p.C170C	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	693					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		TGCCCAGGTGTCCCCCCCAGG	0.647												
FBXL18	80028	broad.mit.edu	37	7	5540477	5540477	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:5540477A>G	uc003soo.2	-	3	1517	c.1423T>C	c.(1423-1425)TTC>CTC	p.F475L	FBXL18_uc003son.3_Missense_Mutation_p.F475L	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	475	LRR 8.									central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		AGAGACCAGAACACGGAGGAG	0.657												
FERD3L	222894	broad.mit.edu	37	7	19184940	19184940	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:19184940A>C	uc003suo.1	-	1	105	c.46T>G	c.(46-48)TTC>GTC	p.F16V	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	16					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						TCTGCGACGAAGTCCAGCACC	0.682												
OSBPL3	26031	broad.mit.edu	37	7	24839808	24839808	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:24839808T>C	uc003sxf.2	-	23	3063	c.2658A>G	c.(2656-2658)TTA>TTG	p.L886L	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.L850L|OSBPL3_uc003sxh.2_Silent_p.L855L|OSBPL3_uc003sxi.2_Silent_p.L819L	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	886					lipid transport		lipid binding|protein binding			skin(1)	1						TTTTTCACCATAAGACAGGAT	0.383												
HOXA6	3203	broad.mit.edu	37	7	27185359	27185359	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:27185359C>T	uc003syo.1	-	2	620	c.620G>A	c.(619-621)CGC>CAC	p.R207H	HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	207	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						CCACTTCATGCGGCGGTTCTG	0.602												
TRIL	9865	broad.mit.edu	37	7	28997405	28997405	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:28997405T>G	uc003szt.2	-	3	625	c.258A>C	c.(256-258)AGA>AGC	p.R86S	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	86	LRR 2.|Extracellular (Potential).				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						GGTCCAGCCGTCTGAGCTGCC	0.617												
CPVL	54504	broad.mit.edu	37	7	29105640	29105640	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:29105640G>A	uc003szv.2	-	10	1081	c.962C>T	c.(961-963)ACG>ATG	p.T321M	CPVL_uc003szw.2_Missense_Mutation_p.T321M|CPVL_uc003szx.2_Missense_Mutation_p.T321M	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	321					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						TGTCATTACCGTGCACCGCAA	0.323												
POU6F2	11281	broad.mit.edu	37	7	39472802	39472802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:39472802G>A	uc003thb.1	+	7	1195	c.1153G>A	c.(1153-1155)GCC>ACC	p.A385T		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	385	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						CCAGATCATCGCCACAGTCAT	0.602												
ZMIZ2	83637	broad.mit.edu	37	7	44802877	44802877	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:44802877C>T	uc003tlr.2	+	13	1848	c.1725C>T	c.(1723-1725)GGC>GGT	p.G575G	ZMIZ2_uc003tlq.2_Silent_p.G517G|ZMIZ2_uc003tls.2_Silent_p.G549G|ZMIZ2_uc003tlt.2_Silent_p.G198G|ZMIZ2_uc010kyj.2_Silent_p.G97G|ZMIZ2_uc003tlu.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	575					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						TCAGCAGCGGCACCATCCCTG	0.587												
TNS3	64759	broad.mit.edu	37	7	47344511	47344511	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:47344511G>A	uc003tnv.2	-	21	3108	c.2741C>T	c.(2740-2742)GCG>GTG	p.A914V	TNS3_uc003tnw.2_Missense_Mutation_p.A914V	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	914						focal adhesion	protein binding			ovary(4)	4						CGTCGAGGACGCATCAGCCCG	0.582												
COBL	23242	broad.mit.edu	37	7	51111346	51111346	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:51111346T>C	uc003tpr.3	-	8	1325	c.1140A>G	c.(1138-1140)GGA>GGG	p.G380G	COBL_uc003tps.2_Silent_p.G437G|COBL_uc011kcl.1_Silent_p.G380G|COBL_uc010kzc.2_Silent_p.G380G|COBL_uc003tpp.3_Silent_p.G166G|COBL_uc003tpq.3_Silent_p.G321G	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	380										skin(3)|ovary(2)	5	Glioma(55;0.08)					CCTGCGGGGCTCCATCCGGGC	0.632												
KCTD7	154881	broad.mit.edu	37	7	66103382	66103382	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:66103382C>T	uc003tve.2	+	3	619	c.457C>T	c.(457-459)CGC>TGC	p.R153C	RABGEF1_uc003tvf.2_5'UTR|KCTD7_uc003tvd.3_Missense_Mutation_p.R153C	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN	potassium channel tetramerisation domain	153						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)	3						CGAGAAGGTGCGCCAAGCGTT	0.582												
FZD9	8326	broad.mit.edu	37	7	72849399	72849399	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:72849399C>T	uc003tyb.2	+	1	1291	c.1062C>T	c.(1060-1062)CAC>CAT	p.H354H		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	354	Cytoplasmic (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCGAGGCCCACGGCAGCTATT	0.642												
WBSCR28	135886	broad.mit.edu	37	7	73275584	73275584	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:73275584G>A	uc003tzk.2	+	1	96	c.60G>A	c.(58-60)AGG>AGA	p.R20R	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	20						integral to membrane				breast(1)	1		Lung NSC(55;0.159)				AGGTTACGAGGCTCTCAGTGC	0.642												
CCDC146	57639	broad.mit.edu	37	7	76889459	76889459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:76889459C>T	uc003uga.2	+	8	1019	c.892C>T	c.(892-894)CGA>TGA	p.R298*	CCDC146_uc010ldp.2_Nonsense_Mutation_p.R44*	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	298	Potential.									ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TGAAGGCAAACGAGCCTTACT	0.363												
SEMA3D	223117	broad.mit.edu	37	7	84702392	84702392	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:84702392T>C	uc003uic.2	-	4	421	c.381A>G	c.(379-381)GAA>GAG	p.E127E	SEMA3D_uc010led.2_Silent_p.E127E|SEMA3D_uc010lee.1_Silent_p.E127E	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	127	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						AATTTGCACATTCTGTCTGTT	0.343												
AKAP9	10142	broad.mit.edu	37	7	91631714	91631714	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:91631714A>G	uc003ulg.2	+	8	2708	c.2483A>G	c.(2482-2484)GAA>GGA	p.E828G	AKAP9_uc003ule.2_Missense_Mutation_p.E840G|AKAP9_uc003ulf.2_Missense_Mutation_p.E828G|AKAP9_uc003uli.2_Missense_Mutation_p.E453G	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	840	Glu-rich.|Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTATAGAGGAAAATGAGGAC	0.323			T	BRAF	papillary thyroid							
CALCR	799	broad.mit.edu	37	7	93108738	93108738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:93108738G>A	uc003umv.1	-	4	448	c.187C>T	c.(187-189)CGA>TGA	p.R63*	CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Nonsense_Mutation_p.R45*|CALCR_uc003umw.2_Nonsense_Mutation_p.R45*	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	45	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	p.R45*(1)		ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATCTTCTTTCGTCCTACGACG	0.398												
COL1A2	1278	broad.mit.edu	37	7	94034179	94034179	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:94034179G>A	uc003ung.1	+	9	878	c.407G>A	c.(406-408)GGC>GAC	p.G136D	COL1A2_uc011kib.1_Missense_Mutation_p.G136D|COL1A2_uc010lfh.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	136					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCCAGCTGGCCCTCCTGGC	0.393										HNSCC(75;0.22)		
ZNF655	79027	broad.mit.edu	37	7	99170985	99170985	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:99170985T>C	uc003urh.2	+	3	1647	c.1254T>C	c.(1252-1254)AGT>AGC	p.S418S	ZNF655_uc010lga.2_Silent_p.S453S|ZNF655_uc010lgc.2_Silent_p.S453S|ZNF655_uc003urj.2_Silent_p.S418S|ZNF655_uc003urk.2_Silent_p.S255S|ZNF655_uc010lgd.2_Silent_p.S255S	NM_138494	NP_612503	Q8N720	ZN655_HUMAN	zinc finger protein 655 isoform a	418	C2H2-type 6.				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AAGCTTTCAGTCAAACCTCAT	0.368												
CYP3A7	1551	broad.mit.edu	37	7	99315250	99315250	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:99315250C>T	uc003uru.2	-	5	436	c.331G>A	c.(331-333)GTG>ATG	p.V111M	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	111					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					ATAAATCCCACTGGCCCGAAA	0.408												
STAG3	10734	broad.mit.edu	37	7	99787211	99787211	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:99787211C>T	uc003utx.1	+	8	1014	c.859C>T	c.(859-861)CGC>TGC	p.R287C	STAG3_uc010lgs.1_Missense_Mutation_p.R75C|STAG3_uc011kjk.1_Missense_Mutation_p.R229C	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	287					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTGGAGAAACGCAAAGAGGT	0.552												
EPHB4	2050	broad.mit.edu	37	7	100410518	100410518	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:100410518G>C	uc003uwn.1	-	12	2460	c.1969C>G	c.(1969-1971)CAG>GAG	p.Q657E	EPHB4_uc003uwm.1_Missense_Mutation_p.Q564E|EPHB4_uc010lhj.1_Missense_Mutation_p.Q657E	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	657	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCACGCCGCTGCCGCTCCGTG	0.627												
EPHB4	2050	broad.mit.edu	37	7	100416267	100416267	+	Splice_Site	SNP	C	C	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:100416267C>G	uc003uwn.1	-	7	1789	c.1298_splice	c.e7-1	p.V433_splice	EPHB4_uc003uwm.1_Splice_Site_p.V340_splice|EPHB4_uc010lhj.1_Splice_Site_p.V433_splice|EPHB4_uc011kkf.1_Splice_Site_p.V433_splice|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Intron	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor						cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCAGGAGGTACTGTGAGAGGC	0.483												
FBXL13	222235	broad.mit.edu	37	7	102604067	102604067	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:102604067C>T	uc003vaq.2	-	8	1064	c.637G>A	c.(637-639)GTG>ATG	p.V213M	FBXL13_uc010liq.1_Missense_Mutation_p.V28M|FBXL13_uc010lir.1_Missense_Mutation_p.V213M|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.V213M|FBXL13_uc003vav.2_RNA	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	213											0						AAAGTAGACACTATATATTTA	0.289												
PSMC2	5701	broad.mit.edu	37	7	102996164	102996164	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:102996164C>A	uc003vbs.2	+	4	284	c.214C>A	c.(214-216)CTG>ATG	p.L72M	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011kln.1_Missense_Mutation_p.L72M|PSMC2_uc011klo.1_Intron	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	72					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0						TGACACTGGCCTGGCCCCACC	0.413												
PNPLA8	50640	broad.mit.edu	37	7	108119718	108119718	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:108119718G>A	uc003vff.1	-	11	2391	c.1984C>T	c.(1984-1986)CGT>TGT	p.R662C	PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.R662C|PNPLA8_uc003vfi.1_Missense_Mutation_p.R562C|PNPLA8_uc003vfj.1_Missense_Mutation_p.R662C|PNPLA8_uc003vfk.1_Missense_Mutation_p.R562C	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	662					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(2)	2						CTCTCATAACGTCCAGTGCCC	0.418												
GPR85	54329	broad.mit.edu	37	7	112724532	112724532	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:112724532T>C	uc010ljv.2	-	2	762	c.245A>G	c.(244-246)AAA>AGA	p.K82R	GPR85_uc003vgp.1_Missense_Mutation_p.K82R|GPR85_uc003vgq.2_Missense_Mutation_p.K82R|GPR85_uc010ljw.1_Missense_Mutation_p.K82R	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	82	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2						AGAACCATTTTTGACAGAGTT	0.433												
MET	4233	broad.mit.edu	37	7	116423356	116423356	+	Splice_Site	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:116423356A>G	uc003vij.2	+	19	3820	c.3633_splice	c.e19-2	p.M1211_splice	MET_uc010lkh.2_Splice_Site_p.M1229_splice|MET_uc011knj.1_Splice_Site_p.M781_splice	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCCTTTCTGTAGGCTGGATGA	0.348			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)			
SPAM1	6677	broad.mit.edu	37	7	123593877	123593877	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:123593877G>A	uc003vld.2	+	4	655	c.253G>A	c.(253-255)GGG>AGG	p.G85R	SPAM1_uc003vle.2_Missense_Mutation_p.G85R|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.G85R|SPAM1_uc010lku.2_Missense_Mutation_p.G85R	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	85					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	AAACGCCACCGGGCAAGGTGT	0.433												
SPAM1	6677	broad.mit.edu	37	7	123594152	123594152	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:123594152T>C	uc003vld.2	+	4	930	c.528T>C	c.(526-528)AAT>AAC	p.N176N	SPAM1_uc003vle.2_Silent_p.N176N|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.N176N|SPAM1_uc010lku.2_Silent_p.N176N	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	176					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	AGCAACAAAATGTACAACTTA	0.388												
C7orf45	136263	broad.mit.edu	37	7	129847757	129847757	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:129847757G>T	uc003vpp.2	+	1	54	c.7G>T	c.(7-9)GAC>TAC	p.D3Y	TMEM209_uc003vpn.2_5'Flank|TMEM209_uc010lmc.1_5'Flank|TMEM209_uc003vpo.2_5'Flank	NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	hypothetical protein LOC136263	3						integral to membrane					0	Melanoma(18;0.0435)					CATCATGGGAGACCTTTTTTC	0.413												
WDR91	29062	broad.mit.edu	37	7	134873256	134873256	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:134873256A>G	uc003vsp.2	-	13	1872	c.1810T>C	c.(1810-1812)TAC>CAC	p.Y604H	WDR91_uc010lmq.2_Missense_Mutation_p.Y193H|WDR91_uc010lmr.2_Intron	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	604	WD 5.									breast(2)|ovary(1)|skin(1)	4						ACCTCCCCGTAGTGGGCCCTC	0.522												
SLC13A4	26266	broad.mit.edu	37	7	135370367	135370367	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:135370367G>T	uc003vta.2	-	14	2197	c.1508C>A	c.(1507-1509)GCT>GAT	p.A503D	SLC13A4_uc003vtb.2_Missense_Mutation_p.A504D|PL-5283_uc003vsz.3_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	503	Helical; (Potential).					integral to plasma membrane	sodium:sulfate symporter activity				0						CAGGGTGACAGCCCACGGTGG	0.547												
CREB3L2	64764	broad.mit.edu	37	7	137612997	137612997	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:137612997G>A	uc003vtw.2	-	2	613	c.218C>T	c.(217-219)CCG>CTG	p.P73L	CREB3L2_uc003vtx.1_Missense_Mutation_p.P73L|CREB3L2_uc003vty.3_Missense_Mutation_p.P73L|CREB3L2_uc003vtv.2_Missense_Mutation_p.P10L	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	73	Cytoplasmic (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						GAGAGGCGCCGGGGACGTCGG	0.577			T	FUS	fibromyxoid sarcoma							
OR2F2	135948	broad.mit.edu	37	7	143632486	143632486	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:143632486G>A	uc011ktv.1	+	1	161	c.161G>A	c.(160-162)CGA>CAA	p.R54Q		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					CTGGACAGCCGACTCCACACT	0.507												
CNTNAP2	26047	broad.mit.edu	37	7	147092860	147092860	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:147092860C>T	uc003weu.1	+	10	2174	c.1658C>T	c.(1657-1659)GCG>GTG	p.A553V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	553	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACATGTGTGCGATCATAGAC	0.428										HNSCC(39;0.1)		
ZNF786	136051	broad.mit.edu	37	7	148767858	148767858	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:148767858G>A	uc003wfh.2	-	4	2143	c.2006C>T	c.(2005-2007)ACG>ATG	p.T669M	ZNF786_uc011kuk.1_Missense_Mutation_p.T632M|ZNF786_uc003wfi.2_Missense_Mutation_p.T583M	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	669	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCCCGTGTGCGTTCTGATGTG	0.577												
ZNF398	57541	broad.mit.edu	37	7	148876830	148876830	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:148876830C>T	uc003wfl.2	+	6	2141	c.1866C>T	c.(1864-1866)GTC>GTT	p.V622V	ZNF398_uc011kul.1_Silent_p.V451V|ZNF398_uc011kum.1_Silent_p.V627V	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	622					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GCCTGGGTGTCAACACTGAAG	0.532												
ZNF467	168544	broad.mit.edu	37	7	149463148	149463148	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:149463148G>A	uc003wgd.2	-	5	584	c.443C>T	c.(442-444)GCG>GTG	p.A148V	ZNF467_uc003wgc.2_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAGACAGCGCGAGCCCACT	0.692												
ZNF467	168544	broad.mit.edu	37	7	149463207	149463207	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:149463207C>T	uc003wgd.2	-	5	525	c.384G>A	c.(382-384)GGG>GGA	p.G128G	ZNF467_uc003wgc.2_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCAGATGCCCCAGGTCAG	0.652												
GIMAP7	168537	broad.mit.edu	37	7	150217549	150217549	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:150217549C>T	uc003whk.2	+	2	617	c.487C>T	c.(487-489)CGC>TGC	p.R163C		NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	163							GTP binding			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCGGGAACCGCTGCTGTGC	0.502												
SLC4A2	6522	broad.mit.edu	37	7	150772823	150772823	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:150772823G>A	uc003wit.3	+	21	3688	c.3432G>A	c.(3430-3432)ATG>ATA	p.M1144I	SLC4A2_uc011kve.1_Missense_Mutation_p.M1135I|SLC4A2_uc003wiu.3_Missense_Mutation_p.M1130I|SLC4A2_uc003wiv.3_Missense_Mutation_p.M338I|uc011kvf.1_Intron	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	1144	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGCTCATGCCGCCCAAAC	0.587												
FASTK	10922	broad.mit.edu	37	7	150774416	150774416	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:150774416C>T	uc003wix.1	-	7	1370	c.1272G>A	c.(1270-1272)GTG>GTA	p.V424V	uc011kvf.1_5'Flank|FASTK_uc003wiw.1_Silent_p.V185V|FASTK_uc003wiy.1_Silent_p.V283V|FASTK_uc003wiz.1_Silent_p.V397V|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	424			V -> L (in a lung adenocarcinoma sample; somatic mutation).		apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	p.V424L(2)		lung(2)|stomach(2)	4			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AGCCTGGAGGCACAGTCAGGT	0.562												
MLL3	58508	broad.mit.edu	37	7	151856107	151856107	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:151856107C>T	uc003wla.2	-	44	11730	c.11511G>A	c.(11509-11511)TTG>TTA	p.L3837L	MLL3_uc003wkz.2_Silent_p.L2898L|MLL3_uc003wkx.2_5'Flank|MLL3_uc003wky.2_Silent_p.L1346L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3837					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)		CTGTTTTTGGCAACTGGTTGC	0.433			N		medulloblastoma							
MLL3	58508	broad.mit.edu	37	7	151878420	151878420	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:151878420A>G	uc003wla.2	-	36	6744	c.6525T>C	c.(6523-6525)AGT>AGC	p.S2175S	MLL3_uc003wkz.2_Silent_p.S1236S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2175	Pro-rich.				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)		GGGGCTGCTGACTATATGGGT	0.463			N		medulloblastoma							
DPP6	1804	broad.mit.edu	37	7	154681010	154681010	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:154681010C>T	uc003wlk.2	+	24	2462	c.2333C>T	c.(2332-2334)GCG>GTG	p.A778V	DPP6_uc003wli.2_Missense_Mutation_p.A714V|DPP6_uc003wlm.2_Missense_Mutation_p.A716V|DPP6_uc011kvq.1_Missense_Mutation_p.A671V	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	778	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CGAGTCTCCGCGCTGGAAGAA	0.537												
NOM1	64434	broad.mit.edu	37	7	156755705	156755705	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:156755705C>T	uc003wmy.2	+	6	1762	c.1747C>T	c.(1747-1749)CGC>TGC	p.R583C	NOM1_uc010lqp.1_Missense_Mutation_p.R32C	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	583					RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TCATCAGGTCCGCAACGCCGG	0.527												
PTPRN2	5799	broad.mit.edu	37	7	157414084	157414084	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:157414084G>A	uc003wno.2	-	15	2435	c.2314C>T	c.(2314-2316)CCC>TCC	p.P772S	PTPRN2_uc003wnp.2_Missense_Mutation_p.P755S|PTPRN2_uc003wnq.2_Missense_Mutation_p.P743S|PTPRN2_uc003wnr.2_Missense_Mutation_p.P734S|PTPRN2_uc011kwa.1_Missense_Mutation_p.P795S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	772	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					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)		CGGTTCTTGGGCACGTTCTCC	0.647												
ZNF596	169270	broad.mit.edu	37	8	196026	196026	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:196026C>T	uc003wot.2	+	6	1467	c.1179C>T	c.(1177-1179)TGC>TGT	p.C393C	ZNF596_uc003wou.2_Silent_p.C292C|ZNF596_uc003wov.2_Silent_p.C393C|ZNF596_uc003wow.2_Silent_p.C393C	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	393	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CATATGAGTGCCATGTATGTG	0.428												
MYOM2	9172	broad.mit.edu	37	8	2072088	2072088	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:2072088G>A	uc003wpx.3	+	31	3830	c.3692G>A	c.(3691-3693)TGT>TAT	p.C1231Y	MYOM2_uc011kwi.1_Missense_Mutation_p.C656Y	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1231					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)		AGTAGAGTCTGTGGTAAGTAA	0.408												
CSMD1	64478	broad.mit.edu	37	8	2836280	2836280	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:2836280C>T	uc011kwk.1	-	55	8813	c.8423G>A	c.(8422-8424)CGT>CAT	p.R2808H	CSMD1_uc011kwj.1_Missense_Mutation_p.R2137H|CSMD1_uc010lrg.2_Missense_Mutation_p.R818H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2808	Extracellular (Potential).|Sushi 20.					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)		TTGCCCGTGACGAATGGCATT	0.403												
RHOBTB2	23221	broad.mit.edu	37	8	22864845	22864845	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:22864845C>T	uc003xcq.2	+	5	1624	c.1087C>T	c.(1087-1089)CGT>TGT	p.R363C	RHOBTB2_uc003xcp.2_Missense_Mutation_p.R385C|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R370C|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	363	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCTGGCCTCCGTGCTTCCAC	0.592												
TRIM35	23087	broad.mit.edu	37	8	27145611	27145611	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:27145611C>T	uc003xfl.1	-	6	1020	c.938G>A	c.(937-939)GGC>GAC	p.G313D	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	313	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGAGAGCCAGCCAGCTGCGGT	0.612												
TRIM35	23087	broad.mit.edu	37	8	27151667	27151667	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:27151667G>A	uc003xfl.1	-	3	774	c.692C>T	c.(691-693)ACG>ATG	p.T231M	TRIM35_uc010lup.1_Missense_Mutation_p.T199M|TRIM35_uc003xfm.1_RNA	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	231	Potential.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CAGCACCTCCGTCTCCTCTGT	0.552												
SCARA5	286133	broad.mit.edu	37	8	27779531	27779531	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:27779531G>A	uc003xgj.2	-	4	913	c.473C>T	c.(472-474)GCG>GTG	p.A158V	SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Missense_Mutation_p.A115V|SCARA5_uc003xgl.2_Missense_Mutation_p.A158V	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	158	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CACCGCCTGCGCCTGCAGCCC	0.721												
DUSP4	1846	broad.mit.edu	37	8	29195908	29195908	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:29195908C>T	uc003xhm.2	-	3	1080	c.690G>A	c.(688-690)TCG>TCA	p.S230S	DUSP4_uc003xhl.2_Silent_p.S139S	NM_001394	NP_001385	Q13115	DUS4_HUMAN	dual specificity phosphatase 4 isoform 1	230	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TTGGGCAGTCCGAGGAGACAT	0.552												
FGFR1	2260	broad.mit.edu	37	8	38275456	38275456	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:38275456G>A	uc003xlp.2	-	12	2426	c.1484C>T	c.(1483-1485)GCA>GTA	p.A495V	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.A493V|FGFR1_uc011lbp.1_Missense_Mutation_p.A406V|FGFR1_uc011lbq.1_Missense_Mutation_p.A404V|FGFR1_uc010lwk.2_Missense_Mutation_p.A485V	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	495	Cytoplasmic (Potential).|Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GATAGCCTCTGCCAACACCAC	0.522		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome					
ADAM32	203102	broad.mit.edu	37	8	39131857	39131857	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:39131857C>G	uc003xmt.3	+	21	2473	c.2228C>G	c.(2227-2229)ACA>AGA	p.T743R	ADAM32_uc011lch.1_Missense_Mutation_p.T644R|ADAM32_uc003xmu.3_Intron|ADAM32_uc003xmv.2_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	743	Cytoplasmic (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGCACTCAGACATATGCCAGC	0.308												
POLB	5423	broad.mit.edu	37	8	42207582	42207582	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:42207582G>T	uc003xoz.1	+	5	432	c.319G>T	c.(319-321)GGT>TGT	p.G107C	POLB_uc003xpa.1_Missense_Mutation_p.G107C|POLB_uc011lcs.1_Intron	NM_002690	NP_002681	P06746	DPOLB_HUMAN	DNA-directed DNA polymerase beta	107					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			ovary(1)|breast(1)	2	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TAGTGGCATTGGGTAAGAACT	0.348								DNA_polymerases_(catalytic_subunits)				
HOOK3	84376	broad.mit.edu	37	8	42812260	42812260	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:42812260C>T	uc003xpr.2	+	7	734	c.492C>T	c.(490-492)GTC>GTT	p.V164V	HOOK3_uc010lxq.1_Silent_p.V164V	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	164	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AATCTCCTGTCTCTGCTGGAA	0.303			T	RET	papillary thyroid							
HOOK3	84376	broad.mit.edu	37	8	42821647	42821647	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:42821647C>T	uc003xpr.2	+	10	1053	c.811C>T	c.(811-813)CGT>TGT	p.R271C	HOOK3_uc010lxq.1_Missense_Mutation_p.R271C	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	271	Potential.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TTATCGAATACGTTGTGAAGA	0.398			T	RET	papillary thyroid							
MCM4	4173	broad.mit.edu	37	8	48874074	48874074	+	Splice_Site	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:48874074A>C	uc003xqk.1	+	3	166	c.71_splice	c.e3-2	p.P24_splice	PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Splice_Site_p.P24_splice|MCM4_uc011ldi.1_Splice_Site_p.P24_splice|MCM4_uc010lxw.1_Splice_Site	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4						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)				GTGTGACACAAGCTCGGAGTG	0.542												
UBE2V2	7336	broad.mit.edu	37	8	48955657	48955657	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:48955657C>T	uc003xqm.2	+	2	102	c.81C>T	c.(79-81)GGC>GGT	p.G27G		NM_003350	NP_003341	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2v2	27					cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding				0		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				AAGGAGTAGGCGACGGTACAG	0.408								Direct_reversal_of_damage|Rad6_pathway				
RB1CC1	9821	broad.mit.edu	37	8	53568774	53568774	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:53568774G>A	uc003xre.3	-	15	4173	c.3615C>T	c.(3613-3615)TAC>TAT	p.Y1205Y	RB1CC1_uc003xrf.3_Silent_p.Y1205Y	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1205	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TAATAGCTTCGTATTTCTCTT	0.343												
SLCO5A1	81796	broad.mit.edu	37	8	70585114	70585114	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:70585114G>A	uc003xyl.2	-	10	3244	c.2537C>T	c.(2536-2538)CCG>CTG	p.P846L	SLCO5A1_uc010lzb.2_Missense_Mutation_p.P791L|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	846						integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCAGGAGGGCGGCTCCAAGGC	0.512												
SLCO5A1	81796	broad.mit.edu	37	8	70744651	70744651	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:70744651C>T	uc003xyl.2	-	2	965	c.258G>A	c.(256-258)CCG>CCA	p.P86P	SLCO5A1_uc010lzb.2_Silent_p.P86P|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.P86P|SLCO5A1_uc010lzc.2_Silent_p.P86P	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	86	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCGAAGTGGACGGGGCAGAGG	0.642											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TRPA1	8989	broad.mit.edu	37	8	72946517	72946517	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:72946517A>G	uc003xza.2	-	22	2826	c.2651T>C	c.(2650-2652)TTT>TCT	p.F884S	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	884	Helical; Name=5; (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	GCTGAGTCCAAAAGCCAGAAG	0.303												
PAG1	55824	broad.mit.edu	37	8	81897284	81897284	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:81897284A>G	uc003ybz.2	-	7	1314	c.603T>C	c.(601-603)AGT>AGC	p.S201S		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	201	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TTGCCTTGCCACTGTGGCCTT	0.512												
MTERFD1	51001	broad.mit.edu	37	8	97269256	97269256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:97269256G>A	uc003yhs.1	-	3	499	c.421C>T	c.(421-423)CCA>TCA	p.P141S	MTERFD1_uc003yhr.1_Missense_Mutation_p.P20S|MTERFD1_uc010mbd.1_Missense_Mutation_p.P141S	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	MTERF domain containing 1 precursor	141					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			ovary(1)	1	Breast(36;5.16e-05)					AATGAAGCTGGTGGCAATGGA	0.418												
VPS13B	157680	broad.mit.edu	37	8	100791202	100791202	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:100791202A>G	uc003yiv.2	+	42	7908	c.7797A>G	c.(7795-7797)GTA>GTG	p.V2599V	VPS13B_uc003yiw.2_Silent_p.V2574V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2599					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGTATTTGTAAACCTTGGAC	0.443												
TNFRSF11B	4982	broad.mit.edu	37	8	119941097	119941097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:119941097C>T	uc003yon.3	-	3	795	c.472G>A	c.(472-474)GCA>ACA	p.A158T	TNFRSF11B_uc010mdc.1_RNA	NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	158	TNFR-Cys 4.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CTACAGGGTGCTTTAGATGAC	0.418												
ADCY8	114	broad.mit.edu	37	8	132051861	132051861	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:132051861G>A	uc003ytd.3	-	1	975	c.719C>T	c.(718-720)ACG>ATG	p.T240M	ADCY8_uc010mds.2_Missense_Mutation_p.T240M	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	240					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGCAGGTACGTGTGGGAGGT	0.647										HNSCC(32;0.087)		
TG	7038	broad.mit.edu	37	8	134034247	134034247	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:134034247G>A	uc003ytw.2	+	40	6929	c.6888G>A	c.(6886-6888)GCG>GCA	p.A2296A	TG_uc010mdw.2_Silent_p.A1055A|TG_uc011ljb.1_Silent_p.A665A|TG_uc011ljc.1_Silent_p.A429A	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2296					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCCTAACGCGTCTGTGCTGG	0.562												
FAM83H	286077	broad.mit.edu	37	8	144810245	144810245	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:144810245C>T	uc003yzk.2	-	5	1455	c.1386G>A	c.(1384-1386)CCG>CCA	p.P462P	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	462					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGTGAGCTGCGGGTCCCACT	0.701												
EPPK1	83481	broad.mit.edu	37	8	144946676	144946676	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:144946676T>G	uc003zaa.1	-	1	759	c.746A>C	c.(745-747)GAG>GCG	p.E249A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	249						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)			GATGCCCACCTCCAGCAGCTC	0.692												
PLEC	5339	broad.mit.edu	37	8	144994175	144994175	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:144994175G>A	uc003zaf.1	-	32	10395	c.10225C>T	c.(10225-10227)CGT>TGT	p.R3409C	PLEC_uc003zab.1_Missense_Mutation_p.R3272C|PLEC_uc003zac.1_Missense_Mutation_p.R3276C|PLEC_uc003zad.2_Missense_Mutation_p.R3272C|PLEC_uc003zae.1_Missense_Mutation_p.R3240C|PLEC_uc003zag.1_Missense_Mutation_p.R3250C|PLEC_uc003zah.2_Missense_Mutation_p.R3258C|PLEC_uc003zaj.2_Missense_Mutation_p.R3299C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3409	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGGAACTGACGCAACAGCTCC	0.607												
GRINA	2907	broad.mit.edu	37	8	145065972	145065972	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:145065972G>T	uc003zan.1	+	3	658	c.492G>T	c.(490-492)AAG>AAT	p.K164N	GRINA_uc003zao.1_Missense_Mutation_p.K164N|GRINA_uc003zap.1_Missense_Mutation_p.K164N	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl	164						integral to membrane				central_nervous_system(1)	1	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)			TCATCCGCAAGGTGGGTAGGG	0.607												
LRRC14	9684	broad.mit.edu	37	8	145746387	145746387	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:145746387C>A	uc003zdk.1	+	4	1153	c.1007C>A	c.(1006-1008)GCC>GAC	p.A336D	LRRC14_uc003zdl.1_Missense_Mutation_p.A336D|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	336											0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCACATGCTGCCCACCTCAAG	0.617												
ZNF251	90987	broad.mit.edu	37	8	145948606	145948606	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:145948606C>T	uc003zdv.3	-	5	695	c.439G>A	c.(439-441)GTG>ATG	p.V147M		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GAATTTCCCACGCGCTCTTTG	0.478												
COMMD5	28991	broad.mit.edu	37	8	146076615	146076615	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:146076615C>A	uc003zem.2	-	2	240	c.109G>T	c.(109-111)GCC>TCC	p.A37S	COMMD5_uc003zel.1_RNA|COMMD5_uc003zen.2_Missense_Mutation_p.A37S|COMMD5_uc003zeo.3_Missense_Mutation_p.A37S|COMMD5_uc010mgf.2_Missense_Mutation_p.A37S	NM_001081004	NP_001074473	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	37						nucleus	protein binding			ovary(1)	1	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AGTAGCCGGGCCATTGCTGCC	0.597												
DOCK8	81704	broad.mit.edu	37	9	379854	379854	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:379854C>T	uc003zgf.2	+	21	2636	c.2524C>T	c.(2524-2526)CAT>TAT	p.H842Y	DOCK8_uc010mgu.2_Missense_Mutation_p.H144Y|DOCK8_uc010mgv.2_Missense_Mutation_p.H774Y|DOCK8_uc010mgw.1_Missense_Mutation_p.H144Y|DOCK8_uc003zgk.2_Missense_Mutation_p.H300Y|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	842					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAAGGACCAGCATGGGAGGAA	0.572												
DMRT3	58524	broad.mit.edu	37	9	990868	990868	+	Missense_Mutation	SNP	C	C	A	rs141821476	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:990868C>A	uc003zgw.1	+	2	1320	c.1282C>A	c.(1282-1284)CGC>AGC	p.R428S		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	428					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R428C(1)		ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCTTCCTGCCCGCGCCACGGA	0.552												
SMARCA2	6595	broad.mit.edu	37	9	2060967	2060967	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:2060967A>G	uc003zhc.2	+	9	1772	c.1673A>G	c.(1672-1674)AAG>AGG	p.K558R	SMARCA2_uc003zhd.2_Missense_Mutation_p.K558R|SMARCA2_uc010mha.2_Missense_Mutation_p.K549R	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	558					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gagaagaagaagaggaggagg	0.418												
KCNV2	169522	broad.mit.edu	37	9	2717876	2717876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:2717876G>A	uc003zho.1	+	1	351	c.137G>A	c.(136-138)TGG>TAG	p.W46*		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	46	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		ATCCACGGCTGGACAGAGGGC	0.617												
KCNV2	169522	broad.mit.edu	37	9	2718786	2718786	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:2718786G>A	uc003zho.1	+	1	1261	c.1047G>A	c.(1045-1047)CAG>CAA	p.Q349Q		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	349	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		TCTACCTTCAGCTGCTGCTCG	0.682												
NFIB	4781	broad.mit.edu	37	9	14125630	14125630	+	Splice_Site	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:14125630C>T	uc003zle.2	-	7	1495	c.1060_splice	c.e7+1	p.V354_splice	NFIB_uc003zld.2_Splice_Site_p.V102_splice|NFIB_uc003zlf.2_Splice_Site_p.V354_splice|NFIB_uc011lmo.1_Splice_Site_p.V354_splice	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B						anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AAACTCCTCACCACTGTGTGC	0.507			T	MYB|HGMA2	adenoid cystic carcinoma|lipoma							
FREM1	158326	broad.mit.edu	37	9	14737531	14737531	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:14737531T>A	uc003zlm.2	-	37	6993	c.6403A>T	c.(6403-6405)ACC>TCC	p.T2135S	FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Missense_Mutation_p.T671S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	2135	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		CTCCCATTGGTGAAGGCAACA	0.468												
FREM1	158326	broad.mit.edu	37	9	14823321	14823321	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:14823321G>T	uc003zlm.2	-	13	2764	c.2174C>A	c.(2173-2175)GCT>GAT	p.A725D	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	725	CSPG 4.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		ATAGTTCACAGCATGCTGCAA	0.433												
HAUS6	54801	broad.mit.edu	37	9	19058129	19058129	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:19058129A>C	uc003znk.2	-	16	2889	c.2636T>G	c.(2635-2637)CTT>CGT	p.L879R	HAUS6_uc011lmz.1_Missense_Mutation_p.L599R|HAUS6_uc003znl.1_Missense_Mutation_p.L743R	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	879					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						CAAAAAGTTAAGCGTATCATC	0.413												
SPINK4	27290	broad.mit.edu	37	9	33240248	33240248	+	Silent	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:33240248C>A	uc003zsh.2	+	1	53	c.42C>A	c.(40-42)GCC>GCA	p.A14A	SUGT1P1_uc010mjq.1_Intron	NM_014471	NP_055286	O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	14						extracellular region	serine-type endopeptidase inhibitor activity				0			LUSC - Lung squamous cell carcinoma(29;0.00506)			CCTTGGCTGCCCTCCTTGTTG	0.622												
NOL6	65083	broad.mit.edu	37	9	33469213	33469213	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:33469213G>A	uc003zsz.2	-	6	955	c.854C>T	c.(853-855)GCA>GTA	p.A285V	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Missense_Mutation_p.A285V|NOL6_uc010mjv.2_Missense_Mutation_p.A285V|NOL6_uc011lob.1_Missense_Mutation_p.A225V|NOL6_uc003ztb.1_Missense_Mutation_p.A285V	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	285					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACCATCCCCTGCAGGACTCTG	0.612												
UBAP1	51271	broad.mit.edu	37	9	34234267	34234267	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:34234267A>G	uc003ztx.2	+	3	323	c.88A>G	c.(88-90)ACA>GCA	p.T30A	UBAP1_uc010mka.1_Intron|UBAP1_uc003zty.2_Missense_Mutation_p.T30A|UBAP1_uc011loi.1_Intron|UBAP1_uc011loj.1_Missense_Mutation_p.T94A|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Missense_Mutation_p.T30A	NM_016525	NP_057609	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	30	UMA.					cytoplasm					0			LUSC - Lung squamous cell carcinoma(29;0.00272)			CAAATTCAAAACACCAGCTAA	0.348												
KIF24	347240	broad.mit.edu	37	9	34256112	34256112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:34256112C>T	uc003zua.3	-	11	3613	c.3493G>A	c.(3493-3495)GAA>AAA	p.E1165K	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1165					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCCATGTGTTCGTGGGAGAAA	0.582												
ZCCHC7	84186	broad.mit.edu	37	9	37126908	37126908	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:37126908C>A	uc003zzq.2	+	2	752	c.579C>A	c.(577-579)AAC>AAA	p.N193K	ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.N192K|ZCCHC7_uc010mlt.2_Missense_Mutation_p.N192K|ZCCHC7_uc003zzs.1_Missense_Mutation_p.N192K	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	193							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.0137)		TCCTTCTCAACCTTGTGGGAT	0.393												
CNTNAP3	79937	broad.mit.edu	37	9	39140608	39140608	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:39140608T>C	uc004abi.2	-	12	2023	c.1784A>G	c.(1783-1785)CAC>CGC	p.H595R	CNTNAP3_uc004abj.2_Missense_Mutation_p.H595R|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.H595R|CNTNAP3_uc011lqs.1_Missense_Mutation_p.H502R|CNTNAP3_uc004abl.1_Missense_Mutation_p.H414R	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	595	Fibrinogen C-terminal.|Extracellular (Potential).				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCGGTGCTTGTGGGCTTCACA	0.478												
TMEM2	23670	broad.mit.edu	37	9	74347431	74347431	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:74347431G>T	uc011lsa.1	-	7	1939	c.1399C>A	c.(1399-1401)CCT>ACT	p.P467T	TMEM2_uc010mos.2_Missense_Mutation_p.P404T|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	467						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAACTGAGGGGTTTCTGGT	0.408												
TRPM6	140803	broad.mit.edu	37	9	77448921	77448921	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:77448921C>T	uc004ajl.1	-	6	900	c.662G>A	c.(661-663)GGA>GAA	p.G221E	TRPM6_uc004ajk.1_Missense_Mutation_p.G216E|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.G221E|TRPM6_uc010mpd.1_Missense_Mutation_p.G221E|TRPM6_uc010mpe.1_Missense_Mutation_p.G221E|TRPM6_uc004ajn.1_Missense_Mutation_p.G221E	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	221	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						TACATCTTTTCCAATAAGGTC	0.333												
VPS13A	23230	broad.mit.edu	37	9	79981681	79981681	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:79981681A>C	uc004akr.2	+	61	8624	c.8364A>C	c.(8362-8364)GAA>GAC	p.E2788D	VPS13A_uc004akp.3_Missense_Mutation_p.E2788D|VPS13A_uc004akq.3_Missense_Mutation_p.E2788D|VPS13A_uc004aks.2_Missense_Mutation_p.E2749D	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2788					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GCAGAGAAGAAGCTAAAGATT	0.313												
HNRNPK	3190	broad.mit.edu	37	9	86586858	86586858	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:86586858C>T	uc004ang.3	-	11	1116	c.892G>A	c.(892-894)GGC>AGC	p.G298S	HNRNPK_uc011lsw.1_Missense_Mutation_p.G58S|HNRNPK_uc004and.3_Missense_Mutation_p.G58S|HNRNPK_uc004ank.3_Missense_Mutation_p.G298S|HNRNPK_uc004anf.3_Missense_Mutation_p.G298S|HNRNPK_uc004anh.3_Missense_Mutation_p.G274S|HNRNPK_uc011lsx.1_Missense_Mutation_p.G274S|HNRNPK_uc004ani.3_Missense_Mutation_p.G298S|HNRNPK_uc004anj.3_Missense_Mutation_p.G298S|HNRNPK_uc004ann.3_Missense_Mutation_p.G274S|HNRNPK_uc004anl.3_Missense_Mutation_p.G298S|HNRNPK_uc004anm.3_Missense_Mutation_p.G298S|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	298	3-4.|2 X 6 AA approximate repeats.|2 X 22 AA approximate repeats.|Interaction with ZIK1 (By similarity).|5 X 4 AA repeats of G-X-G-G.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			skin(1)	1						CCACCCCGGCCGCCTCGTCCG	0.572												
ZCCHC6	79670	broad.mit.edu	37	9	88938202	88938202	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:88938202C>A	uc004aoq.2	-	13	2678	c.2463G>T	c.(2461-2463)GAG>GAT	p.E821D	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.E698D|ZCCHC6_uc004aou.2_Missense_Mutation_p.E821D	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	821	Glu-rich.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						CTTCTAGTTCCTCAGTACCTT	0.373												
WNK2	65268	broad.mit.edu	37	9	95992150	95992150	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:95992150C>T	uc004ati.1	+	2	854	c.854C>T	c.(853-855)ACA>ATA	p.T285I	WNK2_uc011lud.1_Missense_Mutation_p.T285I|WNK2_uc004atj.2_Missense_Mutation_p.T285I|WNK2_uc010mrc.1_Missense_Mutation_p.T285I|WNK2_uc010mrd.1_5'Flank	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	285	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						ACGCTGAAGACGTAAGCTCCG	0.637												
ANKS6	203286	broad.mit.edu	37	9	101530501	101530501	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:101530501G>A	uc004ayu.2	-	11	2025	c.2004C>T	c.(2002-2004)ATC>ATT	p.I668I	ANKS6_uc004ayt.2_Silent_p.I367I|ANKS6_uc004ayv.1_Silent_p.I130I|ANKS6_uc004ayw.1_Silent_p.I250I|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	668	Ser-rich.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				TCTGGGCAGCGATTTGGGACA	0.527												
TMEFF1	8577	broad.mit.edu	37	9	103204565	103204565	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:103204565G>A	uc004bay.1	+	1	378	c.345G>A	c.(343-345)CTG>CTA	p.L115L	C9orf30_uc004baw.2_Silent_p.L115L|C9orf30_uc004bax.2_RNA	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	Error:Variant_position_missing_in_Q8IYR6_after_alignment					multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				CCAGCATGCTGCCGGAGCAGC	0.582												
CYLC2	1539	broad.mit.edu	37	9	105767642	105767642	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:105767642G>C	uc004bbs.2	+	5	799	c.729G>C	c.(727-729)AAG>AAC	p.K243N		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	243	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				ATGAAAAGAAGGATGAGGATG	0.363												
ACTL7B	10880	broad.mit.edu	37	9	111617863	111617863	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:111617863C>A	uc004bdi.2	-	1	413	c.348G>T	c.(346-348)AAG>AAT	p.K116N		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	116						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						CGATGCCGTGCTTCAGCGGGT	0.642												
ACTL7A	10881	broad.mit.edu	37	9	111625161	111625161	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:111625161C>T	uc004bdj.1	+	1	559	c.559C>T	c.(559-561)CTG>TTG	p.L187L		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	187						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						TGCTGAAATGCTGTTTGAAGC	0.567												
PTPN3	5774	broad.mit.edu	37	9	112144725	112144725	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:112144725G>A	uc004bed.2	-	24	2497	c.2385C>T	c.(2383-2385)ACC>ACT	p.T795T	PTPN3_uc004beb.2_Silent_p.T664T|PTPN3_uc004bec.2_Silent_p.T619T|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.T750T|PTPN3_uc011lwh.1_Silent_p.T641T|PTPN3_uc011lwd.1_Silent_p.T263T|PTPN3_uc011lwe.1_Silent_p.T508T|PTPN3_uc011lwf.1_Silent_p.T463T	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	795	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						GTTCTTCCCCGGTCTGTGGGA	0.572												
KIAA0368	23392	broad.mit.edu	37	9	114138817	114138817	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:114138817G>A	uc004bfe.1	-	38	4493	c.4493C>T	c.(4492-4494)GCG>GTG	p.A1498V		NM_001080398	NP_001073867			KIAA0368 protein												0						ACTATCCATCGCAGCCTAAAG	0.388												
SUSD1	64420	broad.mit.edu	37	9	114874015	114874015	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:114874015G>T	uc004bfu.2	-	8	1131	c.1090C>A	c.(1090-1092)CCA>ACA	p.P364T	SUSD1_uc010mui.2_Missense_Mutation_p.P364T|SUSD1_uc010muj.2_Missense_Mutation_p.P364T	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	364	Extracellular (Potential).					integral to membrane	calcium ion binding				0						TTGGTGCCTGGGTACAGGGCT	0.557												
TNFSF15	9966	broad.mit.edu	37	9	117552745	117552745	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:117552745G>A	uc004bjh.2	-	4	859	c.743C>T	c.(742-744)GCC>GTC	p.A248V	TNFSF15_uc004bjg.2_Missense_Mutation_p.A189V	NM_005118	NP_005109	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily,	248	Extracellular (Potential).				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding				0						TAGTAAGAAGGCTCCAAAGAA	0.398												
PAPPA	5069	broad.mit.edu	37	9	119109445	119109445	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:119109445C>T	uc004bjn.2	+	15	4302	c.3921C>T	c.(3919-3921)GGC>GGT	p.G1307G	PAPPA_uc011lxq.1_Silent_p.G682G	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1307	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CCACCTTTGGCAGTCAATGTT	0.542												
CEP110	11064	broad.mit.edu	37	9	123877367	123877367	+	Splice_Site	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:123877367A>G	uc004bkx.1	+	9	1377	c.1346_splice	c.e9-2	p.A449_splice	CEP110_uc004bky.1_Splice_Site_p.A53_splice	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa						cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						TTAAATTTGCAGCACAAACTC	0.333												
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:124062285T>G	uc004blf.1	+	1	205	c.144_splice	c.e1+2	p.R48_splice	GSN_uc004bld.1_Intron|GSN_uc010mvq.1_Intron|GSN_uc010mvr.1_Intron|GSN_uc010mvu.1_Intron|GSN_uc010mvt.1_Intron|GSN_uc010mvs.1_Intron|GSN_uc004ble.1_Intron|GSN_uc010mvv.1_Intron|GSN_uc011lyh.1_Intron|GSN_uc011lyi.1_Intron|GSN_uc011lyj.1_5'Flank	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor						actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						gaggcgcgggtgagtgcccgg	0.348												
GAPVD1	26130	broad.mit.edu	37	9	128061329	128061329	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:128061329T>C	uc010mwx.2	+	4	455	c.129T>C	c.(127-129)CGT>CGC	p.R43R	GAPVD1_uc004bpo.2_Silent_p.R43R|GAPVD1_uc011lzs.1_Silent_p.R43R|GAPVD1_uc004bpp.2_Silent_p.R43R|GAPVD1_uc004bpq.2_Silent_p.R43R|GAPVD1_uc004bpr.2_Silent_p.R43R|GAPVD1_uc004bps.2_Silent_p.R43R|GAPVD1_uc010mwy.1_5'Flank	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	43					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AGTTGTATCGTACAGCATGGA	0.398												
ZBTB43	23099	broad.mit.edu	37	9	129595476	129595476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:129595476C>T	uc004bql.2	+	3	961	c.688C>T	c.(688-690)CCC>TCC	p.P230S	ZBTB43_uc010mxf.2_Missense_Mutation_p.P230S	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTACACCCGGCCCATGTACAG	0.622												
ANGPTL2	23452	broad.mit.edu	37	9	129856048	129856048	+	Silent	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:129856048G>T	uc004bqr.1	-	3	1475	c.975C>A	c.(973-975)GGC>GGA	p.G325G	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Silent_p.G23G	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	325	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding				0						AGTTAACAGAGCCATCCAGGC	0.612												
GARNL3	84253	broad.mit.edu	37	9	130106617	130106617	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:130106617A>G	uc011mae.1	+	15	1756	c.1355A>G	c.(1354-1356)CAG>CGG	p.Q452R	GARNL3_uc011mad.1_Missense_Mutation_p.Q430R|GARNL3_uc004bqt.1_Missense_Mutation_p.Q233R	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	452					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AGAATAGGGCAGGTGGGTTTT	0.478												
ST6GALNAC6	30815	broad.mit.edu	37	9	130653119	130653119	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:130653119C>T	uc004bso.1	-	5	620	c.501G>A	c.(499-501)AGG>AGA	p.R167R	ST6GALNAC6_uc004bsn.1_Silent_p.R133R|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Silent_p.R167R|ST6GALNAC6_uc004bsq.1_Silent_p.R133R|ST6GALNAC6_uc004bsr.2_Silent_p.R133R|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	167	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						ACTCCTGGGGCCTCCTCAGCA	0.612												
CERCAM	51148	broad.mit.edu	37	9	131198024	131198024	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:131198024C>T	uc004buz.3	+	12	2026	c.1628C>T	c.(1627-1629)GCC>GTC	p.A543V	CERCAM_uc004buy.1_Missense_Mutation_p.A465V|CERCAM_uc010mxz.2_Missense_Mutation_p.A465V	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	543					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						GCCGGGGACGCCGAGTGGCTC	0.662												
SPTAN1	6709	broad.mit.edu	37	9	131386637	131386637	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:131386637A>G	uc004bvl.3	+	45	5961	c.5848A>G	c.(5848-5850)AAG>GAG	p.K1950E	SPTAN1_uc004bvm.3_Missense_Mutation_p.K1955E|SPTAN1_uc004bvn.3_Missense_Mutation_p.K1930E|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1950	Spectrin 20.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CATCTCTTCAAAGATGAAGGG	0.532												
C9orf50	375759	broad.mit.edu	37	9	132375434	132375434	+	Silent	SNP	C	C	T	rs149142867	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:132375434C>T	uc004byc.3	-	6	1342	c.1140G>A	c.(1138-1140)CCG>CCA	p.P380P	C9orf50_uc004byb.3_RNA	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	hypothetical protein LOC375759	380										ovary(1)|central_nervous_system(1)	2		Ovarian(14;0.00556)				GGCTGCTTCGCGGCCTCTGAG	0.607												
BAT2L1	84726	broad.mit.edu	37	9	134357813	134357813	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:134357813G>A	uc004can.3	+	20	5094	c.5039G>A	c.(5038-5040)CGG>CAG	p.R1680Q	BAT2L1_uc004cao.3_Missense_Mutation_p.R1037Q|BAT2L1_uc004cap.3_5'Flank	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1680							protein binding				0						GCCGAGTCTCGGGAGTCGTCT	0.602												
DDX31	64794	broad.mit.edu	37	9	135493751	135493751	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:135493751G>A	uc004cbq.1	-	18	2258	c.2106C>T	c.(2104-2106)CAC>CAT	p.H702H	DDX31_uc010mzu.1_Intron	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	702						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCTCACTGGAGTGCACGTAAT	0.557												
ABO	28	broad.mit.edu	37	9	136131645	136131645	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:136131645G>A	uc004cda.1	-	8	498	c.473C>T	c.(472-474)GCG>GTG	p.A158V	ABO_uc010naf.1_Missense_Mutation_p.A17V|ABO_uc011mcz.1_Missense_Mutation_p.A17V|ABO_uc010nag.1_Missense_Mutation_p.A17V	NM_020469	NP_065202	P16442	BGAT_HUMAN	ABO blood group (alpha	158	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		GCGGGGCACCGCGGCCGGCTG	0.647												
CAMSAP1	157922	broad.mit.edu	37	9	138710908	138710908	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:138710908C>T	uc004cgr.3	-	12	3907	c.3907G>A	c.(3907-3909)GTG>ATG	p.V1303M	CAMSAP1_uc004cgq.3_Missense_Mutation_p.V1193M|CAMSAP1_uc010nbg.2_Missense_Mutation_p.V1025M	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1303						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGCTTGCGCACGCGGGCCTCC	0.657												
LHX3	8022	broad.mit.edu	37	9	139089228	139089228	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:139089228G>A	uc004cha.2	-	6	1234	c.1137C>T	c.(1135-1137)CCC>CCT	p.P379P	LHX3_uc004cgz.2_Silent_p.P384P	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	379					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CAGGGAAGTCGGGGTAACCCC	0.697												
CARD9	64170	broad.mit.edu	37	9	139265581	139265581	+	Silent	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:139265581T>C	uc004chg.3	-	4	505	c.339A>G	c.(337-339)TCA>TCG	p.S113S	CARD9_uc011mdw.1_Silent_p.S113S|CARD9_uc011mdx.1_Silent_p.S9S|CARD9_uc010nbj.2_Silent_p.S113S	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	113					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GAGTCAGGCCTGACTCCCCGG	0.627												
NOTCH1	4851	broad.mit.edu	37	9	139401051	139401051	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:139401051C>T	uc004chz.2	-	24	3942	c.3942G>A	c.(3940-3942)AAG>AAA	p.K1314K	NOTCH1_uc004cia.1_Silent_p.K544K	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1314	Extracellular (Potential).|EGF-like 34.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCTTGCAGGGCTTGCCTTTGC	0.687			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
MAMDC4	158056	broad.mit.edu	37	9	139751877	139751877	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:139751877C>T	uc004cjs.2	+	18	2215	c.2165C>T	c.(2164-2166)GCC>GTC	p.A722V	MAMDC4_uc011mej.1_Missense_Mutation_p.A59V	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	801	MAM 4.|Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GACGATGTGGCCGTGCGGCCG	0.692												
TRAF2	7186	broad.mit.edu	37	9	139820133	139820133	+	Splice_Site	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:139820133A>C	uc010nbu.2	+	12	1461	c.1288_splice	c.e12-2	p.V430_splice	TRAF2_uc004cjv.2_Splice_Site_p.V430_splice|TRAF2_uc011mek.1_Splice_Site_p.V419_splice|TRAF2_uc010nbw.2_Splice_Site_p.V405_splice	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2						activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TCTCTCCTCCAGGTGACCTTA	0.617												
NDOR1	27158	broad.mit.edu	37	9	140100312	140100312	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:140100312C>T	uc004clw.2	+	1	194	c.83C>T	c.(82-84)GCC>GTC	p.A28V	TMEM203_uc004clv.2_5'Flank|NDOR1_uc004clx.2_Missense_Mutation_p.A28V|NDOR1_uc011mes.1_Missense_Mutation_p.A28V|NDOR1_uc004cly.2_Missense_Mutation_p.A28V	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	28	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGTCGCGAGGCCCGGCGCCGG	0.731												
FAM166A	401565	broad.mit.edu	37	9	140139126	140139126	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:140139126T>C	uc004cmi.1	-	5	770	c.715A>G	c.(715-717)ATG>GTG	p.M239V		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	239										ovary(1)	1						ATGGCTTGCATGACGCCGTCT	0.592												
SLC25A6	293	broad.mit.edu	37	X	1505589	1505589	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:1505589T>C	uc004cpt.2	-	4	899	c.803A>G	c.(802-804)AAG>AGG	p.K268R	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	268	Solcar 3.				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				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)			Clodronate(DB00720)	GAAGAAGGCCTTGCCCCCCTC	0.617												
GPR143	4935	broad.mit.edu	37	X	9693832	9693832	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:9693832T>C	uc004cst.1	-	9	1229	c.1229A>G	c.(1228-1230)AAC>AGC	p.N410S		NM_000273	NP_000264	P51810	GP143_HUMAN	G protein-coupled receptor 143	390	Cytoplasmic (Potential).				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			ovary(1)	1		Hepatocellular(5;0.000888)				CTCATTTTTGTTGCAGGATTC	0.483												
CDKL5	6792	broad.mit.edu	37	X	18622574	18622574	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:18622574G>A	uc004cym.2	+	12	1783	c.1530G>A	c.(1528-1530)GAG>GAA	p.E510E	CDKL5_uc004cyn.2_Silent_p.E510E	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	510					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)					AAATTGCGGAGCCCAGTACCA	0.552												
GPR64	10149	broad.mit.edu	37	X	19031992	19031992	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:19031992G>A	uc004cyx.2	-	16	1075	c.911C>T	c.(910-912)CCC>CTC	p.P304L	GPR64_uc004cyy.2_Missense_Mutation_p.P301L|GPR64_uc004cyz.2_Missense_Mutation_p.P290L|GPR64_uc004czb.2_Missense_Mutation_p.P304L|GPR64_uc004czc.2_Missense_Mutation_p.P288L|GPR64_uc004czd.2_Missense_Mutation_p.P280L|GPR64_uc004cze.2_Missense_Mutation_p.P274L|GPR64_uc004czf.2_Missense_Mutation_p.P266L|GPR64_uc004cza.2_Missense_Mutation_p.P282L|GPR64_uc004cyw.2_Missense_Mutation_p.P288L|GPR64_uc010nfj.2_Missense_Mutation_p.P274L	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	304	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					TGAAGGCTGGGGTGAAAGGGG	0.552												
DCAF8L1	139425	broad.mit.edu	37	X	27998016	27998016	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:27998016T>C	uc004dbx.1	-	1	1551	c.1436A>G	c.(1435-1437)GAC>GGC	p.D479G		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	479	WD 7.									ovary(3)|skin(1)	4						ATCTCCTCTGTCCCCCTCCAT	0.532												
IL1RAPL1	11141	broad.mit.edu	37	X	29959813	29959813	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:29959813T>C	uc004dby.2	+	9	1611	c.1103T>C	c.(1102-1104)CTC>CCC	p.L368P		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	368	Helical; (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						GGTGCTATACTCTTGCTGCTT	0.403												
DMD	1756	broad.mit.edu	37	X	32360319	32360319	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:32360319C>T	uc004dda.1	-	41	6064	c.5820G>A	c.(5818-5820)GGG>GGA	p.G1940G	DMD_uc004dcw.2_Silent_p.G596G|DMD_uc004dcx.2_Silent_p.G599G|DMD_uc004dcz.2_Silent_p.G1817G|DMD_uc004dcy.1_Silent_p.G1936G|DMD_uc004ddb.1_Silent_p.G1932G|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1940	Spectrin 13.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCATTGCGGCCCCATCCTCAG	0.493												
DMD	1756	broad.mit.edu	37	X	32466739	32466739	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:32466739G>A	uc004dda.1	-	27	3864	c.3620C>T	c.(3619-3621)GCC>GTC	p.A1207V	DMD_uc004dcz.2_Missense_Mutation_p.A1084V|DMD_uc004dcy.1_Missense_Mutation_p.A1203V|DMD_uc004ddb.1_Missense_Mutation_p.A1199V|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1207	Spectrin 8.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTTTGTTGGGCCTCTTCTTT	0.348												
DYNLT3	6990	broad.mit.edu	37	X	37701055	37701055	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:37701055C>G	uc004dds.2	-	3	302	c.176G>C	c.(175-177)GGA>GCA	p.G59A		NM_006520	NP_006511	P51808	DYLT3_HUMAN	dynein, light chain, Tctex-type 3	59					cell division|mitosis|regulation of mitotic cell cycle|transport	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|nucleus|plasma membrane	motor activity				0						ATAGGCTTTTCCCAACTTAAC	0.368												
USP9X	8239	broad.mit.edu	37	X	41025133	41025133	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:41025133T>C	uc004dfb.2	+	16	2627	c.1994T>C	c.(1993-1995)TTG>TCG	p.L665S	USP9X_uc004dfc.2_Missense_Mutation_p.L665S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	665					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						AGATTTTTATTGAAGGATGGT	0.338												
USP11	8237	broad.mit.edu	37	X	47101540	47101540	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:47101540C>T	uc004dhp.2	+	10	1368	c.1368C>T	c.(1366-1368)GAC>GAT	p.D456D	USP11_uc004dhq.2_Silent_p.D183D	NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	456					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						TGATCGTGGACACTTTCCACG	0.567												
KCND1	3750	broad.mit.edu	37	X	48826046	48826046	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:48826046G>A	uc004dlx.1	-	1	2206	c.633C>T	c.(631-633)CGC>CGT	p.R211R	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	211						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						GTGCAGAGCCGCGGCATGGGA	0.582												
GRIPAP1	56850	broad.mit.edu	37	X	48839705	48839705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:48839705G>A	uc004dly.1	-	16	1455	c.1420C>T	c.(1420-1422)CGA>TGA	p.R474*	GRIPAP1_uc004dlz.2_Nonsense_Mutation_p.R364*|GRIPAP1_uc004dma.2_Nonsense_Mutation_p.R421*	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	474	Potential.					early endosome				breast(2)|kidney(1)	3						TGCAGCTCTCGGAGCTCACGC	0.592												
TFE3	7030	broad.mit.edu	37	X	48891239	48891239	+	Splice_Site	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:48891239A>G	uc004dmb.3	-	7	1298	c.1060_splice	c.e7+1	p.I354_splice	TFE3_uc004dmc.3_Splice_Site_p.I249_splice|TFE3_uc004dme.1_Splice_Site	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3						humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						TCTCTGGCTTACTTAGGTTGT	0.582			T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal							
PRAF2	11230	broad.mit.edu	37	X	48931588	48931588	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:48931588G>A	uc004dmi.2	-	1	75	c.59C>T	c.(58-60)GCG>GTG	p.A20V	PRAF2_uc004dmh.2_5'Flank|PRAF2_uc011mmt.1_Intron	NM_007213	NP_009144	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	20	Cytoplasmic (Potential).				L-glutamate transport|protein transport	endosome membrane|integral to membrane					0						CGCCAGACGCGCCGACCCCAG	0.647												
RIBC1	158787	broad.mit.edu	37	X	53455530	53455530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:53455530C>T	uc004dsk.2	+	5	652	c.499C>T	c.(499-501)CAA>TAA	p.Q167*	RIBC1_uc004dsj.1_Nonsense_Mutation_p.Q167*|RIBC1_uc011mog.1_Intron	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1 isoform 1	167											0						CTTGGAAAGGCAACAGCAGGA	0.562												
PHF8	23133	broad.mit.edu	37	X	54069132	54069132	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:54069132G>A	uc004dsu.2	-	2	211	c.138C>T	c.(136-138)TGC>TGT	p.C46C	PHF8_uc004dst.2_Silent_p.C10C|PHF8_uc004dsw.2_Silent_p.C10C|PHF8_uc004dsy.2_Silent_p.C10C	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	46	PHD-type.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						AAGGCAGCCGGCAGAGGCAAT	0.642											OREG0019805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
WNK3	65267	broad.mit.edu	37	X	54275628	54275628	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:54275628C>T	uc004dtd.1	-	17	3592	c.3153G>A	c.(3151-3153)ATG>ATA	p.M1051I	WNK3_uc004dtc.1_Missense_Mutation_p.M1051I	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1051					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						ACTCTGCATCCATAGCTGGCT	0.453												
MAGED2	10916	broad.mit.edu	37	X	54837342	54837342	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:54837342T>C	uc004dtk.1	+	4	720	c.626T>C	c.(625-627)CTA>CCA	p.L209P	MAGED2_uc004dtl.1_Missense_Mutation_p.L209P|MAGED2_uc004dtm.1_Intron|MAGED2_uc010nkc.1_Missense_Mutation_p.L209P|MAGED2_uc004dtn.1_Missense_Mutation_p.L209P|MAGED2_uc004dto.1_Missense_Mutation_p.L183P	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	209										ovary(2)|breast(1)	3						TCAAAGGCCCTAATGGCCTCA	0.602												
MAGEH1	28986	broad.mit.edu	37	X	55479097	55479097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:55479097C>T	uc004dum.2	+	1	560	c.290C>T	c.(289-291)GCG>GTG	p.A97V		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	melanoma antigen, family H, 1 protein	97	MAGE.				apoptosis					ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TCTATATTAGCGCTCATCTTC	0.527												
USP51	158880	broad.mit.edu	37	X	55514661	55514661	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:55514661C>T	uc004dun.1	-	2	791	c.712G>A	c.(712-714)GTA>ATA	p.V238I	USP51_uc011moo.1_Intron	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	238	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GTACTACATACGTGACAGATG	0.443												
RRAGB	10325	broad.mit.edu	37	X	55748712	55748712	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:55748712G>A	uc004dup.2	+	3	871	c.220G>A	c.(220-222)GCA>ACA	p.A74T	RRAGB_uc004duq.2_Missense_Mutation_p.A74T	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	74					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0						TCGCCTTGGCGCAACAAGTAA	0.408												
ZXDB	158586	broad.mit.edu	37	X	57620192	57620192	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:57620192A>G	uc004dvd.2	+	1	1924	c.1711A>G	c.(1711-1713)AGG>GGG	p.R571G		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	571	C2H2-type 10.|Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						CATGGTTAAAAGGCATAAGGT	0.483												
FAM123B	139285	broad.mit.edu	37	X	63411068	63411068	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:63411068G>T	uc004dvo.2	-	2	2372	c.2099C>A	c.(2098-2100)CCT>CAT	p.P700H		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	700					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						CTTCTCCAGAGGACGGAAGTC	0.542												
KIF4A	24137	broad.mit.edu	37	X	69626771	69626771	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:69626771T>C	uc004dyg.2	+	28	3228	c.3101T>C	c.(3100-3102)TTC>TCC	p.F1034S	KIF4A_uc010nkw.2_Missense_Mutation_p.F1034S	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1034	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						AAAGAAAAGTTCCTGGAGCAA	0.264												
DLG3	1741	broad.mit.edu	37	X	69669640	69669640	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:69669640T>A	uc004dyi.1	+	4	962	c.634T>A	c.(634-636)TTG>ATG	p.L212M	DLG3_uc004dyj.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	212	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					TGTGGTGCGATTGGTGGTGCG	0.647												
MED12	9968	broad.mit.edu	37	X	70349689	70349689	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:70349689G>A	uc004dyy.2	+	27	4050	c.3851G>A	c.(3850-3852)CGC>CAC	p.R1284H	MED12_uc011mpq.1_Missense_Mutation_p.R1284H|MED12_uc004dyz.2_Missense_Mutation_p.R1284H|MED12_uc004dza.2_Missense_Mutation_p.R1131H|MED12_uc010nla.2_5'UTR	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1284					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TACGTGCTGCGCAGCATCTGC	0.562											OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OGT	8473	broad.mit.edu	37	X	70767837	70767837	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:70767837A>G	uc004eaa.1	+	5	829	c.612A>G	c.(610-612)CAA>CAG	p.Q204Q	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.Q194Q|OGT_uc004eac.2_Silent_p.Q65Q|OGT_uc004ead.2_5'UTR	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	204	TPR 5.				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					TCAATGCACAAGGGGAAATTT	0.358												
DRP2	1821	broad.mit.edu	37	X	100505521	100505521	+	Silent	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:100505521C>T	uc004egz.2	+	15	2019	c.1650C>T	c.(1648-1650)GCC>GCT	p.A550A	DRP2_uc011mrh.1_Silent_p.A472A	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	550					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						AAGTGGCAGCCTTTGGGGGCA	0.483												
BEX2	84707	broad.mit.edu	37	X	102564886	102564886	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:102564886G>A	uc004ekb.2	-	3	258	c.19C>T	c.(19-21)CGA>TGA	p.R7*	BEX2_uc004eka.2_Nonsense_Mutation_p.R36*	NM_032621	NP_116010	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	7					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				ovary(1)	1						TTTAACGCTCGTTCCTCTTTG	0.468												
SERPINA7	6906	broad.mit.edu	37	X	105279315	105279315	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:105279315G>A	uc004eme.1	-	2	700	c.684C>T	c.(682-684)GAC>GAT	p.D228D	SERPINA7_uc010npd.2_Silent_p.D228D|SERPINA7_uc010npe.1_Silent_p.D228D	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	228					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGTGGTCTTGTCTATTAAGA	0.408												
DOCK11	139818	broad.mit.edu	37	X	117788585	117788585	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:117788585A>C	uc004eqp.2	+	43	4779	c.4716A>C	c.(4714-4716)GAA>GAC	p.E1572D	DOCK11_uc004eqq.2_Missense_Mutation_p.E1351D	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1572	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3						TTCCCGCAGAAGTCAAAGACT	0.423												
PGRMC1	10857	broad.mit.edu	37	X	118370568	118370568	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:118370568T>C	uc004erb.2	+	1	358	c.242T>C	c.(241-243)TTC>TCC	p.F81S	PGRMC1_uc011mts.1_Missense_Mutation_p.F81S	NM_006667	NP_006658	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	81	Cytochrome b5 heme-binding.|Cytoplasmic (Potential).					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding				0						CTGCGGCGCTTCGACGGCGTC	0.716												
ANKRD58	347454	broad.mit.edu	37	X	118893082	118893082	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:118893082T>A	uc010nql.2	+	1	507	c.452T>A	c.(451-453)GTT>GAT	p.V151D		NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN	ankyrin repeat domain 58	151	ANK 2.										0						GGCTACTCGGTTCTGCACTGG	0.692												
THOC2	57187	broad.mit.edu	37	X	122767892	122767892	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:122767892A>G	uc004etu.2	-	20	2080	c.2048T>C	c.(2047-2049)GTA>GCA	p.V683A	THOC2_uc011muh.1_Missense_Mutation_p.V608A	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	683					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						CATTTTTTGTACCACTTCTTT	0.328												
BCORL1	63035	broad.mit.edu	37	X	129189854	129189854	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:129189854G>A	uc004evb.1	+	13	4993	c.4879G>A	c.(4879-4881)GAT>AAT	p.D1627N	BCORL1_uc004evc.1_Missense_Mutation_p.D463N	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1627					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						CCTCTTTTCCGATGTCTTGAA	0.562												
ENOX2	10495	broad.mit.edu	37	X	129801658	129801658	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:129801658C>A	uc004evw.2	-	9	1258	c.840G>T	c.(838-840)GAG>GAT	p.E280D	ENOX2_uc004evx.2_Missense_Mutation_p.E251D|ENOX2_uc004evy.2_Missense_Mutation_p.E251D|ENOX2_uc004evv.2_Missense_Mutation_p.E107D	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	280					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						GACGGTTGACCTCTCCTCGCT	0.448												
USP26	83844	broad.mit.edu	37	X	132160701	132160701	+	Silent	SNP	G	G	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:132160701G>A	uc010nrm.1	-	6	2018	c.1548C>T	c.(1546-1548)ATC>ATT	p.I516I	USP26_uc011mvf.1_Silent_p.I516I	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	516					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					GAACAATAAGGATTCTAGGTA	0.378												
ZNF449	203523	broad.mit.edu	37	X	134494827	134494827	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:134494827A>G	uc004eys.2	+	5	1548	c.1383A>G	c.(1381-1383)AGA>AGG	p.R461R	ZNF449_uc004eyt.2_Silent_p.R341R|ZNF449_uc004eyu.2_Silent_p.R267R	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	461					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAAGAGAGACCTTTTAAAT	0.393												
MAP7D3	79649	broad.mit.edu	37	X	135310894	135310894	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:135310894C>A	uc004ezt.2	-	11	1865	c.1774G>T	c.(1774-1776)GGT>TGT	p.G592C	MAP7D3_uc004ezs.2_Missense_Mutation_p.G556C|MAP7D3_uc011mwc.1_Missense_Mutation_p.G574C|MAP7D3_uc010nsa.1_Missense_Mutation_p.G550C	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	592	Potential.					cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TTCATAATACCTGCAGTACTC	0.403												
MAGEC1	9947	broad.mit.edu	37	X	140995299	140995299	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:140995299C>A	uc004fbt.2	+	4	2395	c.2109C>A	c.(2107-2109)GAC>GAA	p.D703E	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	703							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGAGAGGACTCCCTGTCTT	0.562										HNSCC(15;0.026)		
SPANXN2	494119	broad.mit.edu	37	X	142795423	142795423	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:142795423C>A	uc004fbz.2	-	2	1009	c.255G>T	c.(253-255)GAG>GAT	p.E85D		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	85										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTTCGTCCTCCTCCTCTT	0.478												
SLITRK2	84631	broad.mit.edu	37	X	144904104	144904104	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:144904104T>G	uc004fcd.2	+	5	1151	c.161T>G	c.(160-162)GTT>GGT	p.V54G	SLITRK2_uc010nsp.2_Missense_Mutation_p.V54G|SLITRK2_uc010nso.2_Missense_Mutation_p.V54G|SLITRK2_uc011mwq.1_Missense_Mutation_p.V54G|SLITRK2_uc011mwr.1_Missense_Mutation_p.V54G|SLITRK2_uc011mws.1_Missense_Mutation_p.V54G|SLITRK2_uc004fcg.2_Missense_Mutation_p.V54G|SLITRK2_uc011mwt.1_Missense_Mutation_p.V54G	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	54	Extracellular (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TTTACAACAGTTAGCCTGCTC	0.423												
AFF2	2334	broad.mit.edu	37	X	148038101	148038101	+	Silent	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:148038101A>G	uc004fcp.2	+	11	3005	c.2526A>G	c.(2524-2526)ACA>ACG	p.T842T	AFF2_uc004fcq.2_Silent_p.T832T|AFF2_uc004fcr.2_Silent_p.T803T|AFF2_uc011mxb.1_Silent_p.T807T|AFF2_uc004fcs.2_Silent_p.T809T|AFF2_uc011mxc.1_Silent_p.T483T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	842					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTGTCACAGCTGTGGAGA	0.527												
MAGEA10	4109	broad.mit.edu	37	X	151303514	151303514	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:151303514T>A	uc004ffk.2	-	5	987	c.579A>T	c.(577-579)GAA>GAT	p.E193D	MAGEA10_uc004ffl.2_Missense_Mutation_p.E193D	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	193	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGATCCACTTCCTTTACAT	0.498												
PNMA5	114824	broad.mit.edu	37	X	152159455	152159455	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:152159455C>T	uc010ntw.2	-	3	1027	c.688G>A	c.(688-690)GCC>ACC	p.A230T	PNMA5_uc004fha.3_Missense_Mutation_p.A230T|PNMA5_uc010ntx.2_Missense_Mutation_p.A230T|PNMA5_uc004fgy.3_Missense_Mutation_p.A230T	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN	paraneoplastic antigen like 5	230					apoptosis					ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTTAGGGCGTCAAGGCAC	0.522												
HAUS7	55559	broad.mit.edu	37	X	152721108	152721108	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:152721108T>G	uc004fho.1	-	8	1410	c.852A>C	c.(850-852)CAA>CAC	p.Q284H	HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_Splice_Site|HAUS7_uc004fhn.1_Missense_Mutation_p.Q284H|HAUS7_uc004fhp.1_Splice_Site	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	HAUS augmin-like complex subunit 7	284					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding				0						CGTCGTAGACTTGGAGAAAAG	0.627												
SLC6A8	6535	broad.mit.edu	37	X	152958537	152958537	+	Silent	SNP	C	C	T	rs143750068	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:152958537C>T	uc004fib.3	+	5	1097	c.819C>T	c.(817-819)GTC>GTT	p.V273V	SLC6A8_uc004fic.3_Silent_p.V273V|SLC6A8_uc011myx.1_Silent_p.V158V|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	273	Helical; (Potential).				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TGGTCCTGGTCGTGCTGCTGG	0.622												
ABCD1	215	broad.mit.edu	37	X	152991361	152991361	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:152991361A>G	uc004fif.2	+	1	1039	c.640A>G	c.(640-642)AAC>GAC	p.N214D	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	214	ABC transmembrane type-1.		N -> D (in X-ALD).		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTACTCCAACCTGACCAA	0.672												
PLXNA3	55558	broad.mit.edu	37	X	153696164	153696164	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:153696164C>T	uc004flm.2	+	21	3813	c.3640C>T	c.(3640-3642)CGG>TGG	p.R1214W		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1214	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCGGCAGAGCGGGCGCTGAC	0.692												
IL1R2	7850	broad.mit.edu	37	2	102638649	102638649	+	Splice_Site	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:102638648_102638648GA>G	uc002tbm.3	+	6	918	c.689_splice	c.e6-1	p.K230_splice	IL1R2_uc002tbn.3_Splice_Site_p.K230_splice|IL1R2_uc002tbo.1_Splice_Site_p.K230_splice	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	230					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	ATCTTTCTCAGAAAAAAAAGA	0.438												
ROS1	6098	broad.mit.edu	37	6	117714487	117714487	+	Splice_Site	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:117714486_117714486TA>T	uc003pxp.1	-	11	1364	c.1165_splice	c.e11-1	p.V389_splice	ROS1_uc011ebi.1_Splice_Site|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	389					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GACACATACCTAAAAAAATAA	0.368			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""							
C9orf11	54586	broad.mit.edu	37	9	27296739	27296739	+	Splice_Site	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:27296738_27296738TA>T	uc003zql.3	-	2	161	c.77_splice	c.e2-1	p.A26_splice	C9orf11_uc011lnq.2_Splice_Site_p.A26_splice|C9orf11_uc003zqm.3_Splice_Site_p.A26_splice	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA.	26						acrosomal membrane|integral to membrane				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	17				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		TAGGCAATGCTAAAAAAAAGT	0.323												
PFKP	5214	broad.mit.edu	37	10	3174636	3174637	+	Splice_Site	INS	-	-	GA			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:3174635_3174636T>TGA	uc001igp.3	+	18	1986	c.1910_splice	c.e18+2	p.R637_splice	PFKP_uc001igq.3_Splice_Site_p.R629_splice|PFKP_uc009xhr.3_Splice_Site_p.R599_splice|PFKP_uc009xht.3_Splice_Site_p.R375_splice|PFKP_uc009xhu.3_Splice_Site_p.R143_splice	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	637					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TGTGCTCAGGTGAGAGAGAGAG	0.495												
KIAA0430	9665	broad.mit.edu	37	16	15714308	15714308	+	Splice_Site	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:15714307_15714307CT>C	uc002ddr.3	-	13	2927	c.2720_splice	c.e13+1	p.K907_splice	KIAA0430_uc002ddq.3_Splice_Site_p.K741_splice|KIAA0430_uc010uzv.2_Splice_Site_p.K904_splice|KIAA0430_uc010uzw.2_Splice_Site_p.K907_splice	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	906						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACCTAACTTACTTTTTTTCAT	0.388												
CDH16	1014	broad.mit.edu	37	16	66947519	66947519	+	Splice_Site	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:66947518_66947518TG>T	uc002eql.3	-	8	975	c.781_splice	c.e8-1	p.V261_splice	CDH16_uc010cdy.3_Splice_Site_p.V261_splice|CDH16_uc021tjx.1_Splice_Site_p.V261_splice|CDH16_uc002eqm.3_Splice_Site_p.V164_splice	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	261	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCAGTGTACCTGGGGGGGACA	0.592												
GP1BA	2811	broad.mit.edu	37	17	4837373	4837373	+	RNA	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:4837372_4837372CA>C	uc021toc.1	-	0		c.485_485TG>G			GP1BA_uc021tnz.1_Frame_Shift_Del_p.T491fs|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Frame_Shift_Del_p.T491fs			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TAGAATCCACCAAAAAAACCA	0.502												
TLE2	7089	broad.mit.edu	37	19	3028804	3028804	+	Splice_Site	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:3028803_3028803TG>T	uc010dth.3	-	2	288	c.25_splice	c.e2-1	p.T9_splice	TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	9	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GAGCGGGGTCTGGGGGGGGTG	0.622												
MATK	4145	broad.mit.edu	37	19	3779798	3779798	+	Splice_Site	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:3779797_3779797TG>T	uc002lyt.3	-	9	1143	c.743_splice	c.e9-1	p.A248_splice	MATK_uc002lyv.3_Splice_Site_p.A249_splice|MATK_uc002lyu.3_Splice_Site_p.A207_splice|MATK_uc010dtq.3_Splice_Site_p.A248_splice|JA611290_uc021umx.1_5'Flank	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	248	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGACAGCTGGGGGGTGGG	0.607												
BCKDHA	593	broad.mit.edu	37	19	41916544	41916544	+	Splice_Site	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:41916543_41916543AC>A	uc002oqq.3	+	2	148	c.109_splice	c.e2-1	p.H37_splice	BCKDHA_uc002oqm.4_Splice_Site_p.H71_splice|BCKDHA_uc002oqp.2_Splice_Site|BCKDHA_uc002oqr.3_Splice_Site_p.H37_splice|BCKDHA_uc010xvz.2_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTTCCCCAGCACCCCCCCAGG	0.612												
C20orf151	140893	broad.mit.edu	37	20	60988604	60988604	+	Splice_Site	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:60988603_60988603TG>T	uc002ycw.2	-	11	1728	c.1531_splice	c.e11-1	p.D511_splice		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	511	Pro-rich.									large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			TGAGGGGTCCTGGGGGGAGGC	0.627												
SMPX	23676	broad.mit.edu	37	X	21772423	21772423	+	Splice_Site	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	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												
SLC43A1	8501	broad.mit.edu	37	11	57281506	57281508	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:57281506_57281508delAGA	uc001nkk.2	-	2	195_197	c.77_79delTCT	c.(76-81)TTCTCT>TCT	p.F26del	SLC43A1_uc001nkl.2_In_Frame_Del_p.F26del	NM_003627	NP_003618	O75387	LAT3_HUMAN	solute carrier family 43, member 1	26	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity				0						AGTACAGCAGAGAAGAAGAGGTT	0.611												
PLCB3	5331	broad.mit.edu	37	11	64032517	64032517	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:64032517delC	uc001nzb.2	+	23	2747	c.2747delC	c.(2746-2748)TCCfs	p.S916fs	PLCB3_uc009ypg.1_Frame_Shift_Del_p.S916fs|PLCB3_uc009yph.1_Frame_Shift_Del_p.S849fs|PLCB3_uc009ypi.2_Frame_Shift_Del_p.S916fs	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	916					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						CTGGATGCCTCCCCCCGCCGG	0.701												
RPS6KA4	8986	broad.mit.edu	37	11	64138941	64138941	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:64138941delC	uc001oae.2	+	17	2391	c.2308delC	c.(2308-2310)CCCfs	p.P770fs	RPS6KA4_uc001oad.2_Frame_Shift_Del_p.P764fs|RPS6KA4_uc010rnl.1_Frame_Shift_Del_p.P707fs|RPS6KA4_uc001oaf.2_Frame_Shift_Del_p.P763fs|RPS6KA4_uc009ypp.2_Frame_Shift_Del_p.P522fs	NM_003942	NP_003933	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	770					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			lung(3)|ovary(1)|breast(1)	5						CGGCCCCCTGCCCCCCTCCTA	0.746												
CCDC41	51134	broad.mit.edu	37	12	94729387	94729387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:94729387delT	uc001tdd.2	-	12	1983	c.1397delA	c.(1396-1398)AATfs	p.N466fs	CCDC41_uc001tde.2_Frame_Shift_Del_p.N466fs|CCDC41_uc009zsw.1_RNA	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	458	Potential.										0						AGAATTTTCATTTTTTTCCTT	0.269												
BCKDHA	593	broad.mit.edu	37	19	41929040	41929042	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:41929040_41929042delAGG	uc002oqq.2	+	8	1162_1164	c.1133_1135delAGG	c.(1132-1137)CAGGAG>CAG	p.E379del	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_In_Frame_Del_p.E413del|BCKDHA_uc002oqr.2_In_Frame_Del_p.E378del|BCKDHA_uc010xvz.1_In_Frame_Del_p.E382del	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	379					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						GATGAGGAGCAGGAGAAGGCCTG	0.635												
SMC6	79677	broad.mit.edu	37	2	17888597	17888597	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:17888597delT	uc002rco.2	-	18	2191	c.1895delA	c.(1894-1896)AATfs	p.N632fs	SMC6_uc010exo.2_Frame_Shift_Del_p.N632fs|SMC6_uc002rcn.2_Frame_Shift_Del_p.N632fs|SMC6_uc002rcp.1_Frame_Shift_Del_p.N658fs|SMC6_uc002rcq.2_Frame_Shift_Del_p.N658fs	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	632	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCTCTACAATTTTTGGGTGG	0.338												
RTKN	6242	broad.mit.edu	37	2	74653450	74653450	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:74653450delG	uc002sle.2	-	12	1729	c.1612delC	c.(1612-1614)CTCfs	p.L538fs	RTKN_uc002slc.2_Frame_Shift_Del_p.L525fs|RTKN_uc002sld.2_Frame_Shift_Del_p.L488fs	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN	rhotekin isoform a	538	Pro-rich.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			skin(1)	1						TGAGGTGGGAGGGGGGCAACC	0.652												
NCKAP5	344148	broad.mit.edu	37	2	133887625	133887625	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:133887625delT	uc002ttp.2	-	6	640	c.266delA	c.(265-267)AAGfs	p.K89fs	NCKAP5_uc002ttq.2_Frame_Shift_Del_p.K89fs|NCKAP5_uc002ttt.1_Frame_Shift_Del_p.K89fs|NCKAP5_uc002tts.1_Frame_Shift_Del_p.K64fs	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	89	Potential.						protein binding				0						CTGCAACCGCTTCTCGCTTTG	0.458												
SP140L	93349	broad.mit.edu	37	2	231266129	231266129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:231266129delT	uc010fxm.1	+	17	1562	c.1471delT	c.(1471-1473)TTTfs	p.F491fs	SP140L_uc010fxo.1_3'UTR	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	Error:Variant_position_missing_in_Q9H930_after_alignment						nucleus	DNA binding|metal ion binding			central_nervous_system(1)	1						TGAGAGCTCCTTTTTTGCCAA	0.433												
FAM83D	81610	broad.mit.edu	37	20	37555035	37555035	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:37555035delC	uc002xjg.2	+	1	81	c.40delC	c.(40-42)CGGfs	p.R14fs	FAM83D_uc002xjf.2_Frame_Shift_Del_p.R14fs	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	Error:Variant_position_missing_in_Q9H4H8_after_alignment					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				GCCTATAAAGCGGGACTGCAC	0.652												
C20orf106	200232	broad.mit.edu	37	20	55100911	55100911	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:55100911delA	uc002xxx.2	+	2	381	c.301delA	c.(301-303)AAAfs	p.K101fs	GCNT7_uc010zzg.1_5'UTR|C20orf107_uc010zzh.1_Intron	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	hypothetical protein LOC200232 precursor	101	Cytoplasmic (Potential).					integral to membrane					0			Colorectal(105;0.202)			TCCATTAAAGAAAAAAAGAAA	0.428												
SIK1	150094	broad.mit.edu	37	21	44836942	44836942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:44836942delG	uc002zdf.2	-	14	2159	c.2032delC	c.(2032-2034)CAGfs	p.Q678fs		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	678					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						GGGGCCGGCTGGGGGGCCTGG	0.736												
ABCE1	6059	broad.mit.edu	37	4	146041224	146041224	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:146041224delA	uc003ijx.2	+	11	1503	c.1063delA	c.(1063-1065)AAAfs	p.K355fs	ABCE1_uc003ijy.2_Frame_Shift_Del_p.K355fs|ABCE1_uc010iot.2_RNA	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E, member 1	355	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			skin(1)	1	all_hematologic(180;0.151)					AGGAATGAAGAAAAAAATGGG	0.353												
ACTB	60	broad.mit.edu	37	7	5568135	5568137	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:5568135_5568137delGAG	uc003sos.3	-	3	613_615	c.577_579delCTC	c.(577-579)CTCdel	p.L193del	ACTB_uc003sor.3_In_Frame_Del_p.L71del|ACTB_uc003sot.3_In_Frame_Del_p.L193del|ACTB_uc003soq.3_In_Frame_Del_p.L71del|ACTB_uc010ksy.2_In_Frame_Del_p.L71del	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	193					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGCGCTCGGTGAGGATCTTCATG	0.611												
FAM133B	257415	broad.mit.edu	37	7	92208639	92208639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:92208639delT	uc003umc.2	-	3	294	c.193delA	c.(193-195)ATGfs	p.M65fs	FAM133B_uc003umb.2_Frame_Shift_Del_p.M55fs|FAM133B_uc003umd.2_RNA	NM_152789	NP_690002	Q5BKY9	F133B_HUMAN	hypothetical protein LOC257415 isoform 1	65	Lys-rich.									ovary(1)	1	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ACCTCATTCATTTTTTCTTCA	0.204												
VPS13D	55187	broad.mit.edu	37	1	12335954	12335954	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:12335953_12335953AC>A	uc001atv.3	+	18	2449	c.2308_2308AC>A	c.(2308-2310)accfs	p.T770fs	VPS13D_uc001atw.3_Frame_Shift_Del_p.T770fs|VPS13D_uc001atx.3_5'UTR	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	770					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGAATATAAGACCCCCCTGGC	0.458											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MARCKSL1	65108	broad.mit.edu	37	1	32800540	32800541	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:32800539_32800540T>TG	uc001bvd.3	-	1	446_447	c.246_247A>CA	c.(244-249)cccaagfs	p.P82fs		NM_023009	NP_075385	P49006	MRP_HUMAN	Homo sapiens MARCKS-like 1 (MARCKSL1), mRNA.	82						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)				GGGGTCTCCTTGGGGGGGACCT	0.589												
KIAA1522	57648	broad.mit.edu	37	1	33233495	33233495	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:33233494_33233494AC>A	uc001bvu.1	+	1	386	c.342_342AC>A	c.(340-342)cgafs	p.R114fs	KIAA1522_uc010ohm.1_Frame_Shift_Del_p.R66fs|KIAA1522_uc001bvv.2_Frame_Shift_Del_p.R55fs|KIAA1522_uc010ohn.1_Frame_Shift_Del_p.R55fs	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	55			S -> P (in dbSNP:rs3737994).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACC	0.617												
PTCH2	8643	broad.mit.edu	37	1	45288194	45288194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:45288193_45288193AG>A	uc010olf.2	-	21	3518	c.3506_3506CT>T	c.(3505-3507)ctgfs	p.L1169fs	PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Frame_Shift_Del_p.L867fs	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1169					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCACCAGGCAGGGGGGGTGG	0.657									Basal Cell Nevus syndrome			
GBP7	388646	broad.mit.edu	37	1	89613322	89613323	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:89613321_89613322G>GC	uc001dna.2	-	7	1432_1433	c.1293_1294C>GC	c.(1291-1296)gggcacfs	p.G431fs	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	431						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436												
HIAT1	64645	broad.mit.edu	37	1	100534122	100534123	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:100534121_100534122C>CT	uc001dst.3	+	6	798_799	c.798_799C>CT	c.(796-801)agctttfs	p.S266fs		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	Homo sapiens hippocampus abundant transcript 1 (HIAT1), mRNA.	266					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AATATTCCAGCTTTTTTTTATA	0.386												
RSBN1	54665	broad.mit.edu	37	1	114354926	114354926	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:114354925_114354925GC>G	uc001edq.3	-	0	146	c.110_110GC>C	c.(109-111)gcgfs	p.A37fs	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	37						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGCCCGACCGCCCCCCCGTC	0.677												
INTS3	65123	broad.mit.edu	37	1	153730153	153730154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:153730152_153730153T>TG	uc009wom.3	+	10	1283_1284	c.1062_1063T>TG	c.(1060-1065)tgtgggfs	p.C354fs	INTS3_uc001fct.3_Frame_Shift_Ins_p.C354fs|INTS3_uc001fcu.3_Frame_Shift_Ins_p.C46fs|INTS3_uc001fcv.3_Frame_Shift_Ins_p.C148fs|INTS3_uc010peb.2_Frame_Shift_Ins_p.C148fs|INTS3_uc001fcw.3_5'UTR|INTS3_uc010pec.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	355					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTACATCTGTGGGGTAGTCCA	0.510												
PYGO2	90780	broad.mit.edu	37	1	154932071	154932071	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:154932070_154932070AG>A	uc001fft.3	-	2	612	c.406_406CT>T	c.(406-408)ttcfs	p.F136fs		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	136	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGGGAGGGAAGGGGGGTGGC	0.662												
NES	10763	broad.mit.edu	37	1	156642804	156642805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:156642803_156642804T>TG	uc001fpq.3	-	3	1309_1310	c.1176_1177A>CA	c.(1174-1179)cccacafs	p.P392fs	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	392	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGAGGTGTGGGGGGGATGG	0.594												
ABL2	27	broad.mit.edu	37	1	179077894	179077895	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:179077893_179077894A>AT	uc001gmj.4	-	11	2795_2796	c.2508_2509T>AT	c.(2506-2511)aaatcafs	p.K836fs	ABL2_uc010pnf.2_Frame_Shift_Ins_p.K733fs|ABL2_uc010png.2_Frame_Shift_Ins_p.K712fs|ABL2_uc010pnh.2_Frame_Shift_Ins_p.K815fs|ABL2_uc001gmg.4_Frame_Shift_Ins_p.K718fs|ABL2_uc001gmi.4_Frame_Shift_Ins_p.K821fs|ABL2_uc010pne.2_Frame_Shift_Ins_p.K697fs	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	836	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K800fs*34(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTTTCCTCTGATTTTTTTGGAA	0.525			T	ETV6	AML							
CFHR1	3078	broad.mit.edu	37	1	196762526	196762526	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:196762525_196762525CA>C	uc001gtl.3	+	5	962	c.875_875CA>C	c.(874-876)gcafs	p.A292fs	CFH_uc021pgt.1_Intron|CFHR1_uc010poy.2_Frame_Shift_Del_p.A231fs|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	290	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AAATATTATGCAAAAACAGGG	0.299												
PLEKHA6	22874	broad.mit.edu	37	1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr1:204228410_204228410AC>A	uc001hau.3	-	7	1300	c.983_983GT>T	c.(982-984)gtafs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	328	Pro-rich.							p.V328fs*172(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	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)			AGGCGGGGGTACCCCCCGGCG	0.627												
SCN7A	6332	broad.mit.edu	37	2	167313548	167313548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:167313547_167313547CA>C	uc002udu.2	-	9	1253	c.1123_1123TG>G	c.(1123-1125)gtgfs	p.V375fs	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	375					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTTACCACCACAAAAAATATC	0.353												
TTN	7273	broad.mit.edu	37	2	179659863	179659863	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:179659862_179659862AG>A	uc021vsy.1	-	6	1257	c.1032_1032CT>T	c.(1030-1032)cctfs	p.P344fs	TTN_uc021vsz.1_Frame_Shift_Del_p.P344fs|TTN_uc021vta.1_Frame_Shift_Del_p.P344fs|TTN_uc021vtb.1_Frame_Shift_Del_p.P344fs|TTN_uc002unb.2_Frame_Shift_Del_p.P344fs|TTN_uc010frg.1_Frame_Shift_Del_p.P18fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	344							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)			CTTGCTTCCAAGGGGGAGGCA	0.547												
AGAP1	116987	broad.mit.edu	37	2	236649677	236649677	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr2:236649676_236649676GC>G	uc002vvs.3	+	3	978	c.380_380GC>G	c.(379-381)ggcfs	p.G127fs	AGAP1_uc002vvt.3_Frame_Shift_Del_p.G127fs|AGAP1_uc021vyp.1_Frame_Shift_Del_p.G127fs	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	127	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.G127A(2)|p.G127G(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GATGAAGGGGGCCCCCCGGAG	0.488												
DYNC1LI1	51143	broad.mit.edu	37	3	32569943	32569943	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:32569942_32569942CT>C	uc003cfb.4	-	11	1562	c.1458_1458AG>G	c.(1456-1458)aagfs	p.K486fs	DYNC1LI1_uc011axh.2_Frame_Shift_Del_p.K370fs	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 1 (DYNC1LI1), mRNA.	486					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GCATACCTGACTTTTTGGTGG	0.448												
STAB1	23166	broad.mit.edu	37	3	52547908	52547909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:52547907_52547908G>GC	uc003dej.3	+	31	3431_3432	c.3357_3358G>GC	c.(3355-3360)ctgcccfs	p.L1119fs		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1119					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	p.R1122fs*37(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				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)		AGGTCTTACTGCCCCCCCGAGG	0.624												
MORC1	27136	broad.mit.edu	37	3	108818240	108818240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:108818239_108818239GA>G	uc003dxl.3	-	5	476	c.389_389TC>C	c.(388-390)tctfs	p.S130fs	MORC1_uc011bhn.2_Frame_Shift_Del_p.S130fs	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	130					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GAATGTCTGAGAAAAAAACAC	0.358												
TMEM39A	55254	broad.mit.edu	37	3	119176962	119176962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:119176961_119176961GA>G	uc003eck.1	-	2	603	c.240_240TC>C	c.(238-240)ttcfs	p.F80fs	TMEM39A_uc003ecl.1_5'UTR	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	Homo sapiens transmembrane protein 39A (TMEM39A), mRNA.	80						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACAGGTAGATGAAAAAAAGGA	0.423												
EPHB1	2047	broad.mit.edu	37	3	134851848	134851848	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:134851847_134851847TC>T	uc003eqt.3	+	4	1628	c.1253_1253TC>T	c.(1252-1254)ttcfs	p.F418fs	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_3'UTR|EPHB1_uc003equ.3_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	418	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAGAGTCCCTTCCCCCCACAG	0.582												
GPR87	53836	broad.mit.edu	37	3	151012163	151012163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:151012162_151012162AT>A	uc003eyt.2	-	2	1233	c.872_872AT>T	c.(871-873)atcfs	p.I291fs	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	291						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTAATATAGGATTTTTTGTGC	0.348												
C3orf33	285315	broad.mit.edu	37	3	155481558	155481558	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr3:155481557_155481557CT>C	uc003fam.1	-	4	648	c.634_634AG>G	c.(634-636)ggafs	p.G212fs	C3orf33_uc003fal.1_Frame_Shift_Del_p.G169fs	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	Homo sapiens chromosome 3 open reading frame 33 (C3orf33), mRNA.	169							hydrolase activity, acting on ester bonds|nucleic acid binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATTCCTTCTCCTTTTTTTAAG	0.313												
PI4K2B	55300	broad.mit.edu	37	4	25278792	25278792	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:25278791_25278791AT>A	uc003grk.2	+	9	1561	c.1428_1428AT>A	c.(1426-1428)ccafs	p.P476fs	PI4K2B_uc011bxs.2_Frame_Shift_Del_p.P380fs	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.	476						cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GCAGGAAGCCATTTTTTTCCT	0.388												
NSUN7	79730	broad.mit.edu	37	4	40752837	40752837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:40752836_40752836TC>T	uc003gvj.4	+	1	621	c.126_126TC>T	c.(124-126)tatfs	p.Y42fs	NSUN7_uc003gvh.2_Frame_Shift_Del_p.Y42fs|NSUN7_uc003gvi.4_Frame_Shift_Del_p.Y42fs	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AAACGGGCTATCCGGACTCCG	0.493												
ANK2	287	broad.mit.edu	37	4	114290957	114290957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:114290956_114290956GA>G	uc003ibe.4	+	42	11705	c.11605_11605GA>G	c.(11605-11607)gaafs	p.E3869fs	ANK2_uc003ibd.4_Frame_Shift_Del_p.E1775fs|ANK2_uc003ibf.4_Frame_Shift_Del_p.E1784fs|ANK2_uc011cgc.2_Frame_Shift_Del_p.E960fs|ANK2_uc003ibg.4_Frame_Shift_Del_p.E768fs|ANK2_uc003ibh.4_Frame_Shift_Del_p.E458fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3836					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.E3869K(2)		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)		TGCAGCTTTTGAAAAGGTAAG	0.448												
TNIP3	79931	broad.mit.edu	37	4	122075764	122075764	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:122075763_122075763AT>A	uc021xrj.1	-	7	745	c.666_666AT>T	c.(664-666)aatfs	p.N222fs	TNIP3_uc010ing.3_Frame_Shift_Del_p.N145fs|TNIP3_uc011cgj.2_Frame_Shift_Del_p.N215fs|TNIP3_uc010ini.3_Frame_Shift_Del_p.N145fs	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	145										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TCGCAAGAGTATTTTTTCCCT	0.338												
FAT4	79633	broad.mit.edu	37	4	126411566	126411567	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:126411565_126411566A>AG	uc003ifj.4	+	16	13588_13589	c.13588_13589A>AG	c.(13588-13590)aggfs	p.R4530fs	FAT4_uc011cgp.2_Frame_Shift_Ins_p.R2771fs|FAT4_uc003ifi.1_Frame_Shift_Ins_p.R2007fs	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4530					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAACCAGTGCAGGGGGAAGAAG	0.525												
NEIL3	55247	broad.mit.edu	37	4	178283558	178283558	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr4:178283557_178283557GA>G	uc003iut.2	+	9	1867	c.1750_1750GA>G	c.(1750-1752)gaafs	p.E584fs		NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	584					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TCTTGGGAAGGAAAAACAATG	0.393								Base excision repair (BER), DNA glycosylases				
ARHGAP26	23092	broad.mit.edu	37	5	142437269	142437270	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:142437268_142437269G>GA	uc011dbj.2	+	16	1529_1530	c.1494_1495G>GA	c.(1492-1497)gagaaafs	p.E498fs	ARHGAP26_uc003lmt.3_Frame_Shift_Ins_p.E498fs|ARHGAP26_uc003lmw.3_Frame_Shift_Ins_p.E498fs	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	498	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTCCCAGAGAAAAATCGGCA	0.450												
SLC26A2	1836	broad.mit.edu	37	5	149357647	149357647	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:149357646_149357646CT>C	uc003lrh.3	+	1	699	c.431_431CT>C	c.(430-432)tctfs	p.S144fs		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	144						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTGTACACATCTTTTTTTGCC	0.463												
ADAM19	8728	broad.mit.edu	37	5	156920069	156920069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr5:156920068_156920068GC>G	uc003lwz.3	-	15	1900	c.1821_1821GC>C	c.(1819-1821)ggcfs	p.G607fs	ADAM19_uc003lww.2_Frame_Shift_Del_p.G340fs|ADAM19_uc003lwy.3_Frame_Shift_Del_p.G206fs|ADAM19_uc011ddr.1_Frame_Shift_Del_p.G538fs	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	607	Cys-rich.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGACGTGGGTGCCCCGGCACT	0.607												
FLOT1	10211	broad.mit.edu	37	6	30708321	30708321	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:30708320_30708320CT>C	uc003nrm.3	-	6	687	c.523_523AG>G	c.(523-525)gatfs	p.D175fs	FLOT1_uc011dmr.2_Frame_Shift_Del_p.D127fs	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	175						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						ATCCGTGCATCTTTTTGGACT	0.512												
TBC1D22B	55633	broad.mit.edu	37	6	37250063	37250064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:37250062_37250063G>GC	uc003onn.3	+	3	669_670	c.523_524G>GC	c.(523-525)gccfs	p.A175fs	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	175						intracellular	Rab GTPase activator activity	p.A175P(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CGCTTCTGGGGCCCCCCCAATG	0.569												
DST	667	broad.mit.edu	37	6	56374465	56374465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:56374464_56374464TC>T	uc003pcy.4	-	54	11227	c.11119_11119GA>A	c.(11119-11121)actfs	p.T3707fs		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6119					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTTATCAGTCCCCCCAGAT	0.383												
PHF3	23469	broad.mit.edu	37	6	64408417	64408418	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:64408416_64408417C>CT	uc003pep.1	+	6	2928_2929	c.2903_2904C>CT	c.(2902-2904)tctfs	p.S968fs	PHF3_uc010kah.1_Frame_Shift_Ins_p.S782fs|PHF3_uc003pen.2_Frame_Shift_Ins_p.S880fs|PHF3_uc011dxs.1_Frame_Shift_Ins_p.S237fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	968	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.R971fs*6(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAGCTTTTCTCTTTTTTTCGGG	0.302												
LAMA4	3910	broad.mit.edu	37	6	112438991	112438992	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:112438990_112438991T>TG	uc003pvu.2	-	34	5241_5242	c.4932_4933A>CA	c.(4930-4935)cccatgfs	p.P1644fs	LAMA4_uc003pvv.2_Frame_Shift_Ins_p.P1637fs|LAMA4_uc003pvt.2_Frame_Shift_Ins_p.P1637fs	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1644					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCTGTTTCCATGGGGCCTTCAA	0.446												
FAM26E	254228	broad.mit.edu	37	6	116836954	116836954	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:116836953_116836953GT>G	uc003pwy.3	+	1	783	c.731_731GT>G	c.(730-732)tgtfs	p.C244fs	BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	244						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AACCTGAAATGTTTTTTTGAA	0.463												
ROS1	6098	broad.mit.edu	37	6	117714487	117714487	+	Splice_Site	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:117714486_117714486TA>T	uc003pxp.1	-	11	1364	c.1165_splice	c.e11-1	p.V389_splice	ROS1_uc011ebi.1_Splice_Site|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	389					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GACACATACCTAAAAAAATAA	0.368			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""							
FAM184A	79632	broad.mit.edu	37	6	119324726	119324728	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:119324725_119324727CTCT>C	uc003pyj.3	-	7	2224_2226	c.1876_1878AGAG>G	c.(1876-1878)gag>G	p.E626del	FAM184A_uc003pyk.4_In_Frame_Del_p.E506del|FAM184A_uc003pyl.4_In_Frame_Del_p.E506del	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	626										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTTTGAGCTTCTCTTCTTCTTTC	0.340												
HEBP2	23593	broad.mit.edu	37	6	138734184	138734185	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:138734183_138734184C>CA	uc003qhw.1	+	3	883_884	c.586_587C>CA	c.(586-588)caafs	p.Q196fs		NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN	Homo sapiens heme binding protein 2 (HEBP2), mRNA.	196						mitochondrion		p.N198fs*2(1)		endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		GTGGTTGATTCAAAAAAATGAA	0.361												
SHPRH	257218	broad.mit.edu	37	6	146264759	146264759	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:146264758_146264758CT>C	uc003qlf.3	-	8	2158	c.1759_1759AG>G	c.(1759-1761)ggafs	p.G587fs	SHPRH_uc003qle.3_Frame_Shift_Del_p.G587fs|SHPRH_uc003qlg.1_Frame_Shift_Del_p.G143fs|SHPRH_uc003qlj.1_Frame_Shift_Del_p.G476fs	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	587					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGACTTTTTCCTTTTTTTGTG	0.368												
SYNJ2	8871	broad.mit.edu	37	6	158497755	158497755	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr6:158497754_158497754AC>A	uc003qqx.2	+	16	2495	c.2389_2389AC>A	c.(2389-2391)accfs	p.T797fs	SYNJ2_uc003qqw.2_Frame_Shift_Del_p.T797fs|SYNJ2_uc003qqy.2_Frame_Shift_Del_p.T560fs|SYNJ2_uc003qqz.2_Frame_Shift_Del_p.T414fs|SYNJ2_uc003qra.2_Frame_Shift_Del_p.T140fs	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	797							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.R796C(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAAATGCCGCACCCCCGCCTG	0.537												
SFRP4	6424	broad.mit.edu	37	7	37951761	37951761	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:37951760_37951760TG>T	uc003tfo.4	-	3	1138	c.752_752CA>A	c.(751-753)catfs	p.H251fs		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	251	NTR.				Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AACATCTTGATGGGGCAGGAT	0.473												
VPS41	27072	broad.mit.edu	37	7	38810820	38810820	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:38810819_38810819AT>A	uc003tgy.3	-	13	1190	c.1164_1164AT>T	c.(1162-1164)aatfs	p.N388fs	VPS41_uc003tgz.3_Frame_Shift_Del_p.N363fs|VPS41_uc010kxn.3_Frame_Shift_Del_p.N299fs	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	388					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding	p.N388Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GTCTTTTAATATTTTTTTGGC	0.279												
CDK13	8621	broad.mit.edu	37	7	40102647	40102647	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:40102646_40102646TA>T	uc003thh.4	+	8	3009	c.2727_2727TA>T	c.(2725-2727)actfs	p.T909fs	CDK13_uc003thi.4_Frame_Shift_Del_p.T909fs|CDK13_uc011kbf.2_Frame_Shift_Del_p.T295fs|CDK13_uc003thj.3_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	909	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AACTCTTCACTAAAAAACCTA	0.333												
AKAP9	10142	broad.mit.edu	37	7	91732039	91732039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:91732038_91732038TG>T	uc003ulg.3	+	45	11453	c.11228_11228TG>T	c.(11227-11229)atgfs	p.M3743fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.M3735fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.M3366fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.M1513fs|AKAP9_uc003ull.3_Frame_Shift_Del_p.M639fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAG	0.537			T	BRAF	papillary thyroid							
PILRB	29990	broad.mit.edu	37	7	99955941	99955949	+	In_Frame_Del	DEL	CTGCTGCCC	CTGCTGCCC	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:99955940_99955948GCTGCTGCCC>G	uc022aim.1	+	5	1087_1095	c.15_23GCTGCTGCCC>G	c.(13-24)ctgctgctgccc>ctGc	p.LLP6del	PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_In_Frame_Del_p.LLP6del	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	6					activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCGGCCCCTGCTGCTGCCCCTGCTGCTC	0.675												
SRRT	51593	broad.mit.edu	37	7	100484536	100484539	+	Frame_Shift_Del	DEL	AAGG	AAGG	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:100484535_100484538TAAGG>T	uc003uwy.2	+	13	2034_2037	c.1767_1770TAAGG>T	c.(1765-1770)cctaagfs	p.P589fs	SRRT_uc010lhl.1_Frame_Shift_Del_p.P588fs|SRRT_uc003uxa.2_Frame_Shift_Del_p.P588fs|SRRT_uc003uwz.2_Frame_Shift_Del_p.P589fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	589					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGGAGCCTCCTAAGGAAGGGAACC	0.632												
DNAJC2	27000	broad.mit.edu	37	7	102964992	102964993	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:102964991_102964992A>AT	uc003vbo.3	-	5	841_842	c.590_591T>AT	c.(589-591)aatfs	p.N197fs	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_5'UTR|DNAJC2_uc010lix.3_Frame_Shift_Ins_p.N197fs|DNAJC2_uc003vbp.3_5'UTR|DNAJC2_uc003vbq.1_Non-coding_Transcript	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.	197	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	DNA binding|Hsp70 protein binding|chromatin binding|histone binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GTTTAGGAACATTTTTTTTATT	0.238												
PRKAR2B	5577	broad.mit.edu	37	7	106799947	106799948	+	Frame_Shift_Ins	INS	-	-	A	rs79974757		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr7:106799946_106799947G>GA	uc003vdx.3	+	10	1351_1352	c.1176_1177G>GA	c.(1174-1179)atgaaafs	p.M392fs		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	392					G2/M transition of mitotic cell cycle|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|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TGGAAATTATGAAAAGGAACAT	0.381												
ADAM28	10863	broad.mit.edu	37	8	24167473	24167474	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	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												
MYBL1	4603	broad.mit.edu	37	8	67488453	67488454	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr8:67488452_67488453G>GT	uc003xwj.3	-	9	1666_1667	c.1259_1260C>AC	c.(1258-1260)aacfs	p.N420fs	MYBL1_uc003xwl.3_Frame_Shift_Ins_p.N420fs|MYBL1_uc003xwk.3_Frame_Shift_Ins_p.N419fs	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.	420	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CATTACAAGTGTTTTTTTTCCC	0.406												
CNTLN	54875	broad.mit.edu	37	9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:17484352_17484352TA>T	uc003zmz.2	+	23	3938	c.3912_3912TA>T	c.(3910-3912)cttfs	p.L1304fs	CNTLN_uc003zmy.3_Frame_Shift_Del_p.L1305fs|CNTLN_uc010mio.3_Frame_Shift_Del_p.L984fs	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1305						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TAAGAGAGCTTAAAAAAATGA	0.398												
IL11RA	3590	broad.mit.edu	37	9	34657125	34657126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:34657124_34657125A>AC	uc003zvi.3	+	4	1780_1781	c.424_425A>AC	c.(424-426)accfs	p.T142fs	IL11RA_uc011loq.2_Frame_Shift_Ins_p.T142fs|IL11RA_uc003zvj.3_Frame_Shift_Ins_p.T142fs|IL11RA_uc003zvk.3_Frame_Shift_Ins_p.T142fs|IL11RA_uc010mke.3_Frame_Shift_Ins_p.P17fs	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	142	Fibronectin type-III 1.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CGGTTTACCCACCCGCTACCTC	0.579												
PTCH1	5727	broad.mit.edu	37	9	98209617	98209617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:98209616_98209616TG>T	uc004avk.4	-	22	4110	c.3922_3922CA>A	c.(3922-3924)agafs	p.R1308fs	PTCH1_uc010mrn.3_Frame_Shift_Del_p.R100fs|PTCH1_uc010mro.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrp.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrq.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avl.4_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avm.4_Frame_Shift_Del_p.R1307fs|PTCH1_uc010mrr.3_Frame_Shift_Del_p.R1242fs	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1308					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.R1308G(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGCCTTCTCTGGGGGGGTCC	0.662												
DAB2IP	153090	broad.mit.edu	37	9	124536637	124536638	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:124536636_124536637A>AC	uc004bln.3	+	12	3050_3051	c.2981_2982A>AC	c.(2980-2982)gacfs	p.D994fs	DAB2IP_uc004blo.3_Frame_Shift_Ins_p.D898fs|DAB2IP_uc004blp.3_Frame_Shift_Ins_p.D427fs	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	1022					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGGGCCCAGACCCCCCCCACA	0.634												
ODF2	4957	broad.mit.edu	37	9	131256894	131256895	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:131256893_131256894CTA>C	uc004bvc.3	+	16	2135_2136	c.2049_2050CTA>C	c.(2047-2052)ggctatfs	p.G683fs	ODF2_uc011maz.2_Frame_Shift_Del_p.G619fs|ODF2_uc011mbc.2_Frame_Shift_Del_p.G538fs|ODF2_uc022boj.1_Frame_Shift_Del_p.G615fs|ODF2_uc004bva.3_Frame_Shift_Del_p.G663fs|ODF2_uc004bvb.3_Frame_Shift_Del_p.G595fs|ODF2_uc011mbd.2_Frame_Shift_Del_p.G619fs|ODF2_uc011mbe.2_Frame_Shift_Del_p.G614fs|ODF2_uc011mbf.2_Frame_Shift_Del_p.G600fs|ODF2_uc004bvd.4_Frame_Shift_Del_p.G619fs|ODF2_uc004bve.3_Frame_Shift_Del_p.G600fs|ODF2_uc004bvh.3_5'Flank	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	619					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AACTGCAGGGCTATGAGCGGAA	0.599												
PKN3	29941	broad.mit.edu	37	9	131476550	131476550	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr9:131476549_131476549GC>G	uc004bvw.3	+	10	1779	c.1386_1386GC>G	c.(1384-1386)ctgfs	p.L462fs	PKN3_uc010myh.3_Frame_Shift_Del_p.L462fs|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	462					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TGAACCTGCTGCCCCCCTGCA	0.652												
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	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												
PFKP	5214	broad.mit.edu	37	10	3174636	3174637	+	Splice_Site	INS	-	-	GA			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:3174635_3174636T>TGA	uc001igp.3	+	18	1986	c.1910_splice	c.e18+2	p.R637_splice	PFKP_uc001igq.3_Splice_Site_p.R629_splice|PFKP_uc009xhr.3_Splice_Site_p.R599_splice|PFKP_uc009xht.3_Splice_Site_p.R375_splice|PFKP_uc009xhu.3_Splice_Site_p.R143_splice	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	637					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TGTGCTCAGGTGAGAGAGAGAG	0.495												
ASAH2	56624	broad.mit.edu	37	10	52003089	52003089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:52003088_52003088CT>C	uc001jjd.3	-	2	384	c.384_384AG>G	c.(382-384)cagfs	p.Q128fs	ASAH2_uc009xos.3_Frame_Shift_Del_p.Q128fs	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	128					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						CCTGTGCATTCTGGCCGGATT	0.488												
BTAF1	9044	broad.mit.edu	37	10	93767970	93767970	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:93767969_93767969GA>G	uc001khr.3	+	25	3848	c.3750_3750GA>G	c.(3748-3750)gggfs	p.G1250fs		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1250					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGTTAGATGGGAAAAAATTGG	0.353												
SORCS1	114815	broad.mit.edu	37	10	108431122	108431123	+	Frame_Shift_Ins	INS	-	-	C	rs148239041		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:108431121_108431122T>TC	uc001kyl.3	-	15	2244_2245	c.2062_2063A>GA	c.(2062-2064)gaafs	p.E688fs	SORCS1_uc021pxw.1_Frame_Shift_Ins_p.E688fs|SORCS1_uc009xxs.3_Frame_Shift_Ins_p.E688fs|SORCS1_uc001kym.3_Frame_Shift_Ins_p.E688fs|SORCS1_uc001kyn.2_Frame_Shift_Ins_p.E688fs|SORCS1_uc001kyo.3_Frame_Shift_Ins_p.E688fs	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	688						integral to membrane	neuropeptide receptor activity|protein binding	p.G687E(1)		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)		GATACATGCTTCCCCCTGTAAG	0.436												
ACSL5	51703	broad.mit.edu	37	10	114169371	114169372	+	Frame_Shift_Ins	INS	-	-	C	rs144937522		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:114169370_114169371A>AC	uc001kzu.3	+	6	918_919	c.806_807A>AC	c.(805-807)gacfs	p.D269fs	ACSL5_uc001kzs.3_Frame_Shift_Ins_p.D213fs|ACSL5_uc001kzt.3_Frame_Shift_Ins_p.D213fs|ACSL5_uc009xxz.3_Frame_Shift_Ins_p.D213fs|ACSL5_uc010qrj.2_5'UTR	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	213					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATCCTTATGGACCCCTTTGATG	0.470												
PDZD8	118987	broad.mit.edu	37	10	119042898	119042899	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:119042897_119042898A>AT	uc001lde.1	-	4	3545_3546	c.3346_3347T>AT	c.(3346-3348)atafs	p.I1116fs		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	1116					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTACTTGCTTATTTTTTTGGAG	0.371												
INPP5F	22876	broad.mit.edu	37	10	121556339	121556339	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:121556338_121556338AC>A	uc001leo.3	+	6	997	c.781_781AC>A	c.(781-783)accfs	p.T261fs		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	261	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGCCCAGAGACCCCCCCTCA	0.483												
WDR11	55717	broad.mit.edu	37	10	122622315	122622316	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr10:122622314_122622315G>GA	uc021pzt.1	+	4	840_841	c.594_595G>GA	c.(592-597)gggaaafs	p.G198fs	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	198						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAGGCCCTGGGAAAAAAGTTTA	0.431												
DCHS1	8642	broad.mit.edu	37	11	6662142	6662143	+	Frame_Shift_Ins	INS	-	-	G	rs143767864	byFrequency	TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:6662141_6662142C>CG	uc001mem.1	-	1	1104_1105	c.703_704G>CG	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589												
NAV2	89797	broad.mit.edu	37	11	20127169	20127169	+	Frame_Shift_Del	DEL	G	G	-	rs142419246		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:20127168_20127168CG>C	uc010rdm.2	+	36	7265	c.6904_6904CG>C	c.(6904-6906)cggfs	p.R2302fs	NAV2_uc001mpp.3_Frame_Shift_Del_p.R2182fs|NAV2_uc001mpr.4_Frame_Shift_Del_p.R2246fs|NAV2_uc021qew.1_Frame_Shift_Del_p.R2249fs|NAV2_uc009yhx.3_Frame_Shift_Del_p.R1310fs|NAV2_uc009yhz.3_Frame_Shift_Del_p.R891fs|NAV2_uc001mpu.3_Frame_Shift_Del_p.R684fs|NAV2_uc001mpv.3_Frame_Shift_Del_p.R8fs	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	2305						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GATCAGTGGGCGGGTGCGCAA	0.547												
C11orf9	745	broad.mit.edu	37	11	61533569	61533569	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:61533568_61533568AC>A	uc001nsc.1	+	2	369	c.273_273AC>A	c.(271-273)ccafs	p.P91fs	C11orf9_uc001nse.1_Frame_Shift_Del_p.P82fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	91	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						GTCCCCTCCCACCCCCGGGCT	0.736												
KCNK4	50801	broad.mit.edu	37	11	64064615	64064615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:64064614_64064614AC>A	uc001nzj.1	+	3	660	c.337_337AC>A	c.(337-339)acafs	p.T113fs	KCNK4_uc009ypl.1_Frame_Shift_Del_p.A85fs|KCNK4_uc001nzk.1_Frame_Shift_Del_p.A46fs|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Frame_Shift_Del_p.A46fs|KCNK4_uc001nzm.4_Non-coding_Transcript|KCNK4_uc001nzn.1_Frame_Shift_Del_p.T113fs|KCNK4_uc001nzo.2_Frame_Shift_Del_p.T113fs|C11orf20_uc009ypm.3_5'Flank	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	Homo sapiens potassium channel, subfamily K, member 4 (KCNK4), mRNA.	113						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R112R(1)		breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GGCCCTGCGCACAGATGCCGG	0.652												
RNF121	55298	broad.mit.edu	37	11	71698147	71698149	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:71698146_71698148CTTA>C	uc001ora.3	+	4	835_837	c.495_497CTTA>C	c.(493-498)aactta>aaCa	p.L167del	RNF121_uc001ord.3_In_Frame_Del_p.L86del|RNF121_uc001orb.3_In_Frame_Del_p.L135del|RNF121_uc009yst.3_In_Frame_Del_p.L135del	NM_018320	NP_060790	Q9H920	RN121_HUMAN	Homo sapiens ring finger protein 121 (RNF121), transcript variant 1, mRNA.	167						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TTGGTCTTAACTTATTATTCAAG	0.414												
CEP57	9702	broad.mit.edu	37	11	95555113	95555113	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:95555112_95555112TA>T	uc001pfp.2	+	6	1015	c.777_777TA>T	c.(775-777)attfs	p.I259fs	CEP57_uc001pfo.2_Frame_Shift_Del_p.I259fs|CEP57_uc009ywn.2_Frame_Shift_Del_p.I107fs|CEP57_uc010ruh.2_Frame_Shift_Del_p.I250fs|CEP57_uc001pfq.2_Frame_Shift_Del_p.I259fs|CEP57_uc001pfr.2_Frame_Shift_Del_p.I107fs	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	Homo sapiens centrosomal protein 57kDa (CEP57), transcript variant 1, mRNA.	259					G2/M transition of mitotic cell cycle|fibroblast growth factor receptor signaling pathway|protein import into nucleus, translocation|spermatid development	Golgi apparatus|centrosome|cytosol|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAGAAGAATTAAAAAAAAGA	0.368									Mosaic Variegated Aneuploidy Syndrome			
HEPACAM	220296	broad.mit.edu	37	11	124794951	124794951	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr11:124794950_124794950AC>A	uc001qbk.3	-	1	507	c.101_101GT>T	c.(100-102)gtgfs	p.V34fs	HEPACAM_uc009zbj.3_5'Flank|HEPACAM_uc001qbl.1_Frame_Shift_Del_p.V34fs	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	34	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		p.G33R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGTGATGTTCACCCCCTCCAG	0.607												
AKAP3	10566	broad.mit.edu	37	12	4736154	4736154	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:4736153_4736153TG>T	uc001qnb.4	-	3	2159	c.1915_1915CA>A	c.(1915-1917)aggfs	p.R639fs		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	639					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCATATAGCCTGGGGGGAGAA	0.537												
USP5	8078	broad.mit.edu	37	12	6973278	6973278	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:6973277_6973277AC>A	uc001qri.4	+	16	2221	c.2162_2162AC>A	c.(2161-2163)gacfs	p.D721fs	USP5_uc001qrh.4_Frame_Shift_Del_p.D698fs	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	721					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GCAGCAGCCGACCCCCCTCCT	0.627												
TARBP2	6895	broad.mit.edu	37	12	53898184	53898184	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:53898183_53898183GC>G	uc001sdo.3	+	4	913	c.425_425GC>G	c.(424-426)agcfs	p.S142fs	TARBP2_uc001sdp.3_Frame_Shift_Del_p.S121fs|TARBP2_uc001sdr.3_5'UTR|TARBP2_uc001sdt.3_Frame_Shift_Del_p.S121fs	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	142					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol|nucleus|perinuclear region of cytoplasm	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						TCCTTCAGGAGCCCCCCCATG	0.562												
CCDC41	51134	broad.mit.edu	37	12	94772789	94772791	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:94772788_94772790GTTC>G	uc001tdd.3	-	6	1164_1166	c.578_580GAAC>C	c.(577-582)gaacta>gCta	p.193_194EL>A	CCDC41_uc001tde.3_In_Frame_Del_p.193_194EL>A|CCDC41_uc009zsw.1_Non-coding_Transcript|CCDC41_uc001tdf.3_In_Frame_Del_p.193_194EL>A	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	185										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGGTTACGTAGTTCTTCTTTATC	0.315												
C12orf45	121053	broad.mit.edu	37	12	105388460	105388460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:105388459_105388459TA>T	uc001tlb.3	+	3	576	c.543_543TA>T	c.(541-543)agtfs	p.S181fs		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	Homo sapiens chromosome 12 open reading frame 45 (C12orf45), mRNA.	181										large_intestine(1)|lung(2)	3						GTCCAGCAAGTAAAAAAAAGA	0.353												
NUAK1	9891	broad.mit.edu	37	12	106466564	106466564	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr12:106466563_106466563CA>C	uc001tlj.1	-	4	2018	c.638_638TG>G	c.(637-639)tgtfs	p.C213fs		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	213	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGACTCCCACAAAACGTTTG	0.502												
ELF1	1997	broad.mit.edu	37	13	41525494	41525494	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr13:41525493_41525493AG>A	uc001uxs.3	-	3	706	c.333_333CT>T	c.(331-333)cctfs	p.P111fs	ELF1_uc010tfc.2_Frame_Shift_Del_p.P111fs|ELF1_uc010acd.3_Frame_Shift_Del_p.P4fs	NM_172373	NP_758961	P32519	ELF1_HUMAN	Homo sapiens E74-like factor 1 (ets domain transcription factor) (ELF1), transcript variant 1, mRNA.	111					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GCATAGGGCCAGGGGAATCCA	0.368												
IRF9	10379	broad.mit.edu	37	14	24633132	24633133	+	In_Frame_Ins	INS	-	-	AGC			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:24633131_24633132G>GAGC	uc001wmq.3	+	4	1360_1361	c.540_541G>GAGC	c.(538-543)gggagc>ggGAGCgc	p.180_181GS>GS	RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_In_Frame_Ins_p.78_79GS>GS	NM_006084	NP_006075	Q00978	IRF9_HUMAN	Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.	180					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CAGACATTGGGagcagcagcag	0.564												
NRXN3	9369	broad.mit.edu	37	14	79270136	79270136	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:79270135_79270135TG>T	uc001xun.3	+	5	1589	c.1098_1098TG>T	c.(1096-1098)gatfs	p.D366fs	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Frame_Shift_Del_p.D500fs	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	144					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGAGCTGGATGGGGGGCGTG	0.542												
SERPINA9	327657	broad.mit.edu	37	14	94929494	94929496	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr14:94929493_94929495AATC>A	uc001ydf.3	-	4	1404_1406	c.1243_1245GATT>T	c.(1243-1245)att>T	p.I415del	SERPINA9_uc001yde.3_In_Frame_Del_p.I315del|SERPINA9_uc010avc.3_In_Frame_Del_p.I266del|SERPINA9_uc001ydg.3_In_Frame_Del_p.I379del	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	397					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CTTTATTTGTAATCATCATCAGG	0.463												
B2M	567	broad.mit.edu	37	15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	CT	-	rs11553044		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:45003780_45003781ACT>A	uc001zuc.3	+	0	96_97	c.36_37ACT>A	c.(34-39)ctactcfs	p.L12fs	B2M_uc010uek.1_Frame_Shift_Del_p.L12fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L12fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	12					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.A11fs*42(2)|p.L13F(2)|p.L12Q(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGCTCGCGCTACTCTCTCTTTC	0.614												
UNC13C	440279	broad.mit.edu	37	15	54306720	54306720	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:54306719_54306719AT>A	uc021smr.1	+	0	1619	c.1619_1619AT>A	c.(1618-1620)gatfs	p.D540fs	UNC13C_uc021sms.1_Frame_Shift_Del_p.D540fs	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	540					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			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)		TCACAGAGTGATTTTTTCACT	0.368												
IQGAP1	8826	broad.mit.edu	37	15	91019925	91019926	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr15:91019924_91019925C>CA	uc002bpl.1	+	23	2915_2916	c.2814_2815C>CA	c.(2812-2817)accaaafs	p.T938fs		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	938					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding	p.L937R(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAAACTTACCAAAAAAAATAA	0.361												
KIAA0430	9665	broad.mit.edu	37	16	15714308	15714308	+	Splice_Site	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:15714307_15714307CT>C	uc002ddr.3	-	13	2927	c.2720_splice	c.e13+1	p.K907_splice	KIAA0430_uc002ddq.3_Splice_Site_p.K741_splice|KIAA0430_uc010uzv.2_Splice_Site_p.K904_splice|KIAA0430_uc010uzw.2_Splice_Site_p.K907_splice	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	906						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACCTAACTTACTTTTTTTCAT	0.388												
MYH11	4629	broad.mit.edu	37	16	15820795	15820797	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:15820794_15820796GCTT>G	uc002ddx.3	-	28	3895_3897	c.3788_3790AAGC>C	c.(3787-3792)aagctg>aCtg	p.1263_1264KL>T	MYH11_uc002ddv.3_In_Frame_Del_p.1263_1264KL>T|MYH11_uc002ddw.3_In_Frame_Del_p.1256_1257KL>T|MYH11_uc002ddy.3_In_Frame_Del_p.1256_1257KL>T|MYH11_uc010bvg.3_In_Frame_Del_p.1088_1089KL>T|MYH11_uc010bvh.3_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1256			Missing (in AAT4).		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.K1256delK(1)|p.K1263delK(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGCGCCTCCAGCTTCTTCTTCTT	0.616			T	CBFB	AML							
PALB2	79728	broad.mit.edu	37	16	23646981	23646981	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:23646980_23646980AT>A	uc002dlx.1	-	3	1087	c.887_887AT>T	c.(886-888)atgfs	p.M296fs		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	296	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AGAGACAGTCATTTTTTTGCC	0.368			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks				
ATXN2L	11273	broad.mit.edu	37	16	28847350	28847350	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:28847349_28847349TG>T	uc002dqy.3	+	21	3158	c.2991_2991TG>T	c.(2989-2991)catfs	p.H997fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.H1003fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drf.3_Frame_Shift_Del_p.H406fs|ATXN2L_uc002drg.3_Frame_Shift_Del_p.H280fs	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	997						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCAGAGTCATGGGGGGCCCC	0.687												
TAOK2	9344	broad.mit.edu	37	16	30002499	30002499	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:30002498_30002498TG>T	uc002dvc.2	+	18	3576	c.2759_2759TG>T	c.(2758-2760)ctgfs	p.L920fs	BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 2, mRNA.	809					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGCATGGCTCTGGGGGGCATC	0.682												
PHKG2	5261	broad.mit.edu	37	16	30768017	30768017	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:30768016_30768016AC>A	uc002dzk.2	+	8	1117	c.907_907AC>A	c.(907-909)accfs	p.T303fs	PHKG2_uc021tgo.1_Frame_Shift_Del_p.T303fs	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.	303					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CTGGAACCTCACCCCCCGCCA	0.627												
PRSS36	146547	broad.mit.edu	37	16	31154777	31154777	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:31154776_31154776CG>C	uc002ebd.3	-	7	1046	c.987_987CG>G	c.(985-987)ccgfs	p.P329fs	PRSS36_uc010vff.2_Frame_Shift_Del_p.P104fs|PRSS36_uc010vfg.2_Frame_Shift_Del_p.P329fs|PRSS36_uc010vfh.2_Frame_Shift_Del_p.P329fs	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	329	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCCCTGGCCGCGGGGCCTTCC	0.662												
TOX3	27324	broad.mit.edu	37	16	52473795	52473797	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:52473794_52473796GAGA>G	uc002egw.2	-	6	1243_1245	c.1072_1074TCTC>C	c.(1072-1074)ctc>C	p.L358del	TOX3_uc010vgt.1_In_Frame_Del_p.L353del	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	358					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTGGAGTGTTGAGAAGGAGAGAG	0.537												
CDH16	1014	broad.mit.edu	37	16	66947519	66947519	+	Splice_Site	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:66947518_66947518TG>T	uc002eql.3	-	8	975	c.781_splice	c.e8-1	p.V261_splice	CDH16_uc010cdy.3_Splice_Site_p.V261_splice|CDH16_uc021tjx.1_Splice_Site_p.V261_splice|CDH16_uc002eqm.3_Splice_Site_p.V164_splice	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	261	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCAGTGTACCTGGGGGGGACA	0.592												
HYDIN	54768	broad.mit.edu	37	16	71218785	71218785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr16:71218784_71218784TC>T	uc002ezr.3	-	2	396	c.245_245GA>A	c.(244-246)gaafs	p.E82fs	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Frame_Shift_Del_p.E82fs|HYDIN_uc010vmc.2_Frame_Shift_Del_p.E99fs|HYDIN_uc010vmd.2_Frame_Shift_Del_p.E109fs|HYDIN_uc002ezw.4_Frame_Shift_Del_p.E99fs	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	82								p.E82K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTGTTGTTTCCCCCATATC	0.443												
GP1BA	2811	broad.mit.edu	37	17	4837373	4837373	+	RNA	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:4837372_4837372CA>C	uc021toc.1	-	0		c.485_485TG>G			GP1BA_uc021tnz.1_Frame_Shift_Del_p.T491fs|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Frame_Shift_Del_p.T491fs			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TAGAATCCACCAAAAAAACCA	0.502												
ZNF624	57547	broad.mit.edu	37	17	16526706	16526706	+	Frame_Shift_Del	DEL	T	T	-	rs34948063		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:16526705_16526705GT>G	uc010cpi.2	-	5	1587	c.1495_1495AC>C	c.(1495-1497)cccfs	p.P499fs	ZNF624_uc021tre.1_Frame_Shift_Del_p.P373fs	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CATTCATAGGGTTTTTCCCCA	0.373												
MYO15A	51168	broad.mit.edu	37	17	18025032	18025032	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:18025031_18025031TC>T	uc021trm.1	+	0	3136	c.2917_2917TC>T	c.(2917-2919)tccfs	p.S973fs	MYO15A_uc021trl.1_Frame_Shift_Del_p.S973fs	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	973	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)					CCCTGTGCCATCCCCCACCCT	0.657												
KRT28	162605	broad.mit.edu	37	17	38950122	38950122	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:38950121_38950121CT>C	uc002hvh.1	-	5	1222	c.1156_1156AG>G	c.(1156-1158)gaafs	p.E386fs		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	386	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GTCTCAATTTCTTTTTCCAAG	0.498												
KRT33B	3884	broad.mit.edu	37	17	39525931	39525931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:39525930_39525930TG>T	uc002hwl.3	-	0	118	c.73_73CA>A	c.(73-75)agcfs	p.S25fs		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	25	Head.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CCGTGGCAGCTGGGGGGCACA	0.647												
KCNH4	23415	broad.mit.edu	37	17	40328259	40328259	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:40328258_40328258AC>A	uc002hzb.2	-	4	976	c.643_643GT>T	c.(643-645)tctfs	p.S215fs		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACG	0.602												
NAGLU	4669	broad.mit.edu	37	17	40690468	40690469	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:40690467_40690468G>GC	uc002hzv.3	+	2	982_983	c.642_643G>GC	c.(640-645)ctgcccfs	p.L214fs		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	214						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	ATGGCCCCCTGCCCCCCTCCTG	0.594												
AARSD1	80755	broad.mit.edu	37	17	41108535	41108535	+	Frame_Shift_Del	DEL	G	G	-	rs35465584		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:41108534_41108534AG>A	uc010whg.2	-	9	1301	c.955_955CT>T	c.(955-957)tctfs	p.S319fs	AARSD1_uc002icd.3_Frame_Shift_Del_p.S258fs|AARSD1_uc010cyu.1_Frame_Shift_Del_p.S145fs	NM_001136042	NP_079543	Q9BTE6	AASD1_HUMAN	Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA.	145					alanyl-tRNA aminoacylation	cytoplasm	ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GCAGTCATAGAGGGGGTGTCC	0.483												
POLG2	11232	broad.mit.edu	37	17	62481966	62481966	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:62481965_62481965AT>A	uc002jei.3	-	4	1088	c.990_990AT>T	c.(988-990)aatfs	p.N330fs	POLG2_uc021ubq.1_Frame_Shift_Del_p.N63fs|POLG2_uc010deg.2_Frame_Shift_Del_p.N330fs	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	330					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)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			AAGGAACCACATTTTTTCGTC	0.413												
SOX9	6662	broad.mit.edu	37	17	70117594	70117594	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:70117593_70117593GC>G	uc002jiw.3	+	0	433	c.61_61GC>G	c.(61-63)gccfs	p.A21fs	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	21					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCTGTCCGGCGCCCCCAGCCC	0.711												
ITGB4	3691	broad.mit.edu	37	17	73746239	73746239	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:73746238_73746238AC>A	uc002jpg.3	+	27	3550	c.3363_3363AC>A	c.(3361-3363)ccafs	p.P1121fs	ITGB4_uc002jph.3_Frame_Shift_Del_p.P1121fs|ITGB4_uc002jpi.4_Frame_Shift_Del_p.P1121fs|ITGB4_uc002jpj.3_Frame_Shift_Del_p.P1121fs	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1121					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			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	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)			CATCACAGCCACCCCCTCACG	0.617											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CDK3	1018	broad.mit.edu	37	17	73997602	73997604	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:73997601_73997603TGAA>T	uc002jqg.4	+	3	1931_1933	c.179_181TGAA>T	c.(178-183)ctgaag>cTag	p.K62del	CDK3_uc010dgt.3_In_Frame_Del_p.K34del	NM_001258	NP_001249	Q00526	CDK3_HUMAN	Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA.	34	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CTGGTGGCCCTGAAGAAGATCAG	0.581												
SLC38A10	124565	broad.mit.edu	37	17	79219742	79219742	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr17:79219741_79219741TC>T	uc002jzz.1	-	15	3350	c.2975_2975GA>A	c.(2974-2976)gacfs	p.D992fs	SLC38A10_uc002jzy.1_Frame_Shift_Del_p.D910fs|SLC38A10_uc021uey.1_Frame_Shift_Del_p.D67fs	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	992					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGGCACATGGTCCCCCCCGCG	0.682												
MATK	4145	broad.mit.edu	37	19	3779798	3779798	+	Splice_Site	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:3779797_3779797TG>T	uc002lyt.3	-	9	1143	c.743_splice	c.e9-1	p.A248_splice	MATK_uc002lyv.3_Splice_Site_p.A249_splice|MATK_uc002lyu.3_Splice_Site_p.A207_splice|MATK_uc010dtq.3_Splice_Site_p.A248_splice|JA611290_uc021umx.1_5'Flank	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	248	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGACAGCTGGGGGGTGGG	0.607												
MUC16	94025	broad.mit.edu	37	19	9049103	9049104	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:9049102_9049103G>GA	uc002mkp.3	-	4	32732_32733	c.32528_32529C>TC	c.(32527-32529)ttcfs	p.F10843fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10845	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTACTATGGAAAAAAATGGA	0.490												
ZNF43	7594	broad.mit.edu	37	19	21992087	21992087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:21992086_21992086AT>A	uc002nqj.3	-	3	883	c.753_753AT>T	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATCTAGTATAATTTTTTTTAT	0.348												
MLL2	8085	broad.mit.edu	37	19	36218451	36218451	+	Frame_Shift_Del	DEL	G	G	-	rs34078597		TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:36218450_36218450AG>A	uc021usv.1	+	15	4229	c.4229_4229AG>A	c.(4228-4230)cagfs	p.Q1410fs	MLL2_uc021usu.1_Frame_Shift_Del_p.Q224fs	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGGCCCTCCAGGGGGGCCTG	0.706			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
KIRREL2	84063	broad.mit.edu	37	19	36349618	36349618	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:36349617_36349617GC>G	uc002ocb.4	+	3	585	c.373_373GC>G	c.(373-375)gccfs	p.A125fs	KIRREL2_uc002obz.4_Frame_Shift_Del_p.A125fs|KIRREL2_uc002oca.4_Frame_Shift_Del_p.A75fs|KIRREL2_uc002ocd.4_Frame_Shift_Del_p.A122fs	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	125	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCCCAGAAGCCCCCCAGGT	0.617												
BCKDHA	593	broad.mit.edu	37	19	41916544	41916544	+	Splice_Site	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:41916543_41916543AC>A	uc002oqq.3	+	2	148	c.109_splice	c.e2-1	p.H37_splice	BCKDHA_uc002oqm.4_Splice_Site_p.H71_splice|BCKDHA_uc002oqp.2_Splice_Site|BCKDHA_uc002oqr.3_Splice_Site_p.H37_splice|BCKDHA_uc010xvz.2_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTTCCCCAGCACCCCCCCAGG	0.612												
MEGF8	1954	broad.mit.edu	37	19	42838298	42838298	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:42838297_42838297TG>T	uc002otl.4	+	2	1125	c.490_490TG>T	c.(490-492)tggfs	p.W164fs	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	164	EGF-like 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGAGCCGGGCTGGGGGGGTCC	0.701												
BCL3	602	broad.mit.edu	37	19	45262726	45262726	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:45262725_45262725TC>T	uc010xxe.2	+	8	1288	c.1218_1218TC>T	c.(1216-1218)tctfs	p.S406fs		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	406	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCTCCCAGTCTCCCCCCAGGG	0.627			T	IGH@	CLL							
ZNF468	90333	broad.mit.edu	37	19	53344851	53344851	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:53344850_53344850GT>G	uc002qaf.3	-	3	848	c.697_697AC>C	c.(697-699)catfs	p.H233fs	ZNF468_uc002qae.3_Frame_Shift_Del_p.H180fs|ZNF468_uc021uzb.1_Frame_Shift_Del_p.H180fs	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ATTATCTGATGTTTTTTTAAG	0.353												
NLRP13	126204	broad.mit.edu	37	19	56423266	56423266	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr19:56423265_56423265GA>G	uc010ygg.2	-	4	1943	c.1918_1918TC>C	c.(1918-1920)cacfs	p.H640fs		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	640							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTAGGCAGTGAAAAAGTCGT	0.423												
PLAGL2	5326	broad.mit.edu	37	20	30789952	30789952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:30789951_30789951AG>A	uc002wxn.2	-	1	248	c.31_31CT>T	c.(31-33)tggfs	p.W11fs		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	11						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTGAATCCAGGGGGGGACG	0.557												
ZFP64	55734	broad.mit.edu	37	20	50769076	50769077	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:50769075_50769076A>AG	uc002xwl.3	-	5	2004_2005	c.1655_1656T>CT	c.(1654-1656)cctfs	p.P552fs	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Frame_Shift_Ins_p.P550fs|ZFP64_uc002xwn.3_Frame_Shift_Ins_p.P498fs	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673												
C20orf151	140893	broad.mit.edu	37	20	60988604	60988604	+	Splice_Site	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr20:60988603_60988603TG>T	uc002ycw.2	-	11	1728	c.1531_splice	c.e11-1	p.D511_splice		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	511	Pro-rich.									large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			TGAGGGGTCCTGGGGGGAGGC	0.627												
LSS	4047	broad.mit.edu	37	21	47626623	47626624	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chr21:47626622_47626623G>GC	uc002zij.3	-	15	1606_1607	c.1527_1528C>GC	c.(1525-1530)gggcacfs	p.G509fs	LSS_uc002zil.2_Frame_Shift_Ins_p.G509fs|LSS_uc011afv.1_Frame_Shift_Ins_p.G498fs|LSS_uc002zik.2_Frame_Shift_Ins_p.G429fs	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	509					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCCAGCAAGTGCCCCCCACGCT	0.599												
OSBP2	23762	broad.mit.edu	37	22	31289120	31289121	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	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												
MOSPD2	158747	broad.mit.edu	37	X	14933883	14933883	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:14933882_14933882TG>T	uc004cwi.3	+	11	1306	c.1182_1182TG>T	c.(1180-1182)catfs	p.H394fs	MOSPD2_uc004cwj.3_Frame_Shift_Del_p.H331fs	NM_152581	NP_001170946	Q8NHP6	MSPD2_HUMAN	Homo sapiens motile sperm domain containing 2 (MOSPD2), transcript variant 1, mRNA.	394	MSP.					integral to membrane	structural molecule activity	p.P393L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TGTCTCCCCATGGGGGTGAGT	0.517												
SMPX	23676	broad.mit.edu	37	X	21772423	21772423	+	Splice_Site	DEL	A	A	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	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												
SRPX	8406	broad.mit.edu	37	X	38033445	38033445	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:38033444_38033444GT>G	uc004ddy.2	-	2	450	c.318_318AC>C	c.(316-318)aacfs	p.N106fs	SRPX_uc011mki.2_Frame_Shift_Del_p.N106fs|SRPX_uc004ddz.2_Frame_Shift_Del_p.N86fs|SRPX_uc011mkh.2_Frame_Shift_Del_p.N106fs	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	106	Sushi 1.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ACCATCGTTTGTTTGACTGGC	0.522												
HUWE1	10075	broad.mit.edu	37	X	53562382	53562384	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:53562381_53562383CCTT>C	uc004dsp.3	-	80	13013_13015	c.12611_12613AAGG>G	c.(12610-12615)aaggag>aGag	p.4204_4205KE>R	HUWE1_uc004dsn.3_In_Frame_Del_p.3012_3013KE>R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	4204	HECT.				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	p.L4204L(1)|p.K4094del(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTACATACTCCTTCTTATTCTC	0.438												
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:135314193_135314193TG>T	uc004ezt.3	-	7	1144	c.923_923CA>A	c.(922-924)cagfs	p.Q308fs	MAP7D3_uc004ezs.3_Frame_Shift_Del_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.Q266fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537												
CSAG1	158511	broad.mit.edu	37	X	151908803	151908804	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-6566-01A-11D-1800-08	TCGA-BR-6566-10A-01D-1800-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1711a24c-b7ae-4201-9f26-cf2403a84f40	fecaae37-316f-4955-9ae6-ba247f6813bf	g.chrX:151908802_151908803T>TG	uc004fge.3	+	3	369_370	c.41_42T>TG	c.(40-42)ctgfs	p.L14fs	CSAG1_uc004fgf.3_Frame_Shift_Ins_p.L14fs|CSAG1_uc004fgd.3_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA.	14										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ttCACTGTCCTGGGGGAAGCTC	0.500