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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
PLEKHG5	57449	broad.mit.edu	37	1	6531696	6531696	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:6531696A>T	uc001ano.1	-	13	1402	c.1301T>A	c.(1300-1302)GTG>GAG	p.V434E	PLEKHG5_uc001ann.1_Missense_Mutation_p.V415E|PLEKHG5_uc001anq.1_Missense_Mutation_p.V455E|PLEKHG5_uc001anp.1_Missense_Mutation_p.V455E|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Missense_Mutation_p.V218E|PLEKHG5_uc010nzr.1_Missense_Mutation_p.V447E|PLEKHG5_uc001ank.1_Missense_Mutation_p.V378E|PLEKHG5_uc009vmb.1_Missense_Mutation_p.V378E|PLEKHG5_uc001anl.1_Missense_Mutation_p.V378E|PLEKHG5_uc001anm.1_Missense_Mutation_p.V378E|PLEKHG5_uc001anr.1_5'Flank	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	434	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)		CTCCGCCTCCACCTGGGCGCG	0.736		NA											5	0					0	0	0	0
FBXO44	93611	broad.mit.edu	37	1	11718615	11718615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:11718615G>A	uc001asm.2	+	4	544	c.418G>A	c.(418-420)GAC>AAC	p.D140N	FBXO44_uc001ask.2_Intron|FBXO44_uc010oaq.1_3'UTR|FBXO44_uc001asl.2_Missense_Mutation_p.D140N|FBXO44_uc001asn.2_Intron|FBXO44_uc010oar.1_Missense_Mutation_p.G130E|FBXO44_uc010oas.1_Intron	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN	F-box protein 44 isoform 1	140	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTGGTGGACCTCAAGGC	0.662		NA											24	5					0	0	0	0
ECE1	1889	broad.mit.edu	37	1	21585219	21585219	+	Silent	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:21585219G>C	uc001bek.2	-	6	804	c.729C>G	c.(727-729)GCC>GCG	p.A243A	ECE1_uc001bem.2_Silent_p.A227A|ECE1_uc001bej.2_Silent_p.A231A|ECE1_uc001bei.2_Silent_p.A240A|ECE1_uc010odl.1_Silent_p.A243A|ECE1_uc009vqa.1_Silent_p.A243A	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	243	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCTTGGAATCGGCACTGACAT	0.572		NA											7	31					0	0	0	0
OPRD1	4985	broad.mit.edu	37	1	29185555	29185555	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:29185555G>A	uc001brf.1	+	2	559	c.317G>A	c.(316-318)AGT>AAT	p.S106N		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	106	Extracellular (Potential).				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CCTTTCCAGAGTGCCAAGTAC	0.537		NA											52	20					0	0	0	0
COL24A1	255631	broad.mit.edu	37	1	86590952	86590952	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:86590952A>C	uc001dlj.2	-	3	1109	c.1067T>G	c.(1066-1068)ATC>AGC	p.I356S	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.I356S	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	356					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGCCTCACTGATGCGATGAGT	0.418		NA											25	19					0	0	0	0
CELSR2	1952	broad.mit.edu	37	1	109794098	109794098	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:109794098C>T	uc001dxa.3	+	1	1458	c.1397C>T	c.(1396-1398)ACG>ATG	p.T466M		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	466	Cadherin 3.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GACTATGAGACGACCAAGGAG	0.547		NA											38	113					0	0	0	0
ZNF697	90874	broad.mit.edu	37	1	120165879	120165879	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:120165879C>T	uc001ehy.1	-	3	1201	c.1087G>A	c.(1087-1089)GTG>ATG	p.V363M		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	363	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAACGGCGCACGAAGCCCTTG	0.502		NA											2	1					0	0	0	0
OR10R2	343406	broad.mit.edu	37	1	158450008	158450008	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:158450008T>C	uc010pik.1	+	1	341	c.341T>C	c.(340-342)TTC>TCC	p.F114S	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	114	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					ACAATCTCCTTCAACTGTTGT	0.438		NA											140	117					0	0	0	0
OR6K2	81448	broad.mit.edu	37	1	158669969	158669969	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:158669969C>G	uc001fsu.1	-	1	474	c.474G>C	c.(472-474)GAG>GAC	p.E158D		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					TCCAGGCAATCTCAGGAAGGG	0.483		NA											11	45					0	0	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011784	160011784	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:160011784C>T	uc001fuw.1	-	2	689	c.539G>A	c.(538-540)CGT>CAT	p.R180H		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	180	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGCTGAAACGAATGGTCTC	0.562		NA											67	84					0	0	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518384	161518384	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:161518384C>T	uc001gat.3	-	4	283	c.146G>A	c.(145-147)GGA>GAA	p.G49E	FCGR3A_uc001gar.2_Missense_Mutation_p.G85E|FCGR3A_uc001gas.2_Missense_Mutation_p.G84E|FCGR3A_uc009wuh.2_Missense_Mutation_p.G48E|FCGR3A_uc009wui.2_Missense_Mutation_p.G49E	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor	49	Ig-like C2-type 1.|Extracellular (Potential).				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)	GGAGTAGGCTCCCTGGCACTT	0.542		NA											33	247					0	0	0	0
ACBD6	84320	broad.mit.edu	37	1	180399399	180399399	+	Splice_Site	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:180399399T>A	uc001gog.2	-	4	1006	c.385_splice	c.e4-1	p.I129_splice		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	acyl-coenzyme A binding domain containing 6							cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1						CTCTGGTATCTGTGGGAAGGA	0.323		NA											13	88					0	0	0	0
F13B	2165	broad.mit.edu	37	1	197032145	197032145	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:197032145G>A	uc001gtt.1	-	2	151	c.107C>T	c.(106-108)GCC>GTC	p.A36V		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	36	Sushi 1.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						GTAATATTGGGCAATTCTTCC	0.323		NA											39	250					0	0	0	0
PIGR	5284	broad.mit.edu	37	1	207105858	207105858	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:207105858G>A	uc001hez.2	-	8	2135	c.1951C>T	c.(1951-1953)CTG>TTG	p.L651L	PIGR_uc009xbz.2_Silent_p.L651L	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	651	Helical; (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CCCACTGCCAGCACCAGGCCC	0.637		NA											47	65					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	216348641	216348641	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:216348641T>C	uc001hku.1	-	21	4967	c.4580A>G	c.(4579-4581)TAT>TGT	p.Y1527C	USH2A_uc001hkv.2_Missense_Mutation_p.Y1527C	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1527	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAATTTACAATACCCATTTCC	0.423		NA								HNSCC(13;0.011)			10	55					0	0	0	0
AKR1C4	1109	broad.mit.edu	37	10	5247720	5247720	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr10:5247720C>A	uc001ihw.2	+	4	403	c.370C>A	c.(370-372)CCA>ACA	p.P124T		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	124					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			ovary(1)	1					NADH(DB00157)	TCTACTTCAGCCAGGTGAGAC	0.448		NA											20	4					1.01e-13	1.18e-13	1	0
GPRIN2	9721	broad.mit.edu	37	10	46999984	46999984	+	Silent	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr10:46999984G>T	uc001jec.2	+	3	1239	c.1104G>T	c.(1102-1104)CTG>CTT	p.L368L	GPRIN2_uc010qfq.1_Silent_p.L131L	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	368											0						AGGTAACTCTGGGGTCCAGCC	0.672		NA											10	85					7.48e-07	8.28e-07	1	0
ZNF511	118472	broad.mit.edu	37	10	135123687	135123687	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr10:135123687G>A	uc001lml.1	+	4	474	c.449G>A	c.(448-450)GGC>GAC	p.G150D	TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc001lmh.1_Intron|ZNF511_uc001lmj.1_Missense_Mutation_p.G150D|ZNF511_uc001lmk.1_Missense_Mutation_p.G150D|ZNF511_uc001lmm.1_RNA			Q8NB15	ZN511_HUMAN	SubName: Full=cDNA FLJ78327; SubName: Full=Zinc finger protein 511, isoform CRA_d;	150	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TTGGTAGAAGGCTGCACAGAG	0.582		NA											52	72					0	0	0	0
MRPL23	6150	broad.mit.edu	37	11	1973401	1973401	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:1973401A>G	uc001lux.2	+	3	276	c.185A>G	c.(184-186)AAC>AGC	p.N62S		NM_021134	NP_066957	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	62					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|ovary(1)	3		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGCATCTATAACGTGCCCGTG	0.552		NA											25	20					0	0	0	0
VPS37C	55048	broad.mit.edu	37	11	60901634	60901634	+	Missense_Mutation	SNP	G	G	A	rs144006897		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:60901634G>A	uc001nqv.1	-	3	199	c.139C>T	c.(139-141)CGG>TGG	p.R47W	VPS37C_uc001nqw.1_Missense_Mutation_p.R47W	NM_017966	NP_060436	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37C	47					cellular membrane organization|endosome transport|protein transport	late endosome membrane					0						GCCAGGCTCCGGTTGGTGGCC	0.582		NA											22	62					0	0	0	0
KLC2	64837	broad.mit.edu	37	11	66031616	66031616	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:66031616C>T	uc010rov.1	+	8	1285	c.1042C>T	c.(1042-1044)CGG>TGG	p.R348W	KLC2_uc010row.1_Missense_Mutation_p.R348W|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Missense_Mutation_p.R348W|KLC2_uc010rox.1_Missense_Mutation_p.R271W|KLC2_uc001ohc.2_Missense_Mutation_p.R348W|KLC2_uc001ohd.2_Missense_Mutation_p.R271W|KLC2_uc001ohe.1_Missense_Mutation_p.R209W	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	348	TPR 4.				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0						ATATTACTATCGGCGGGCACT	0.577		NA											3	1					0	0	0	0
GPR152	390212	broad.mit.edu	37	11	67219165	67219165	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:67219165G>A	uc001olm.2	-	1	1036	c.1031C>T	c.(1030-1032)CCG>CTG	p.P344L	uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	344	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTCTGCCATCGGCTCTGGCAG	0.637		NA											12	31					0	0	0	0
MMP12	4321	broad.mit.edu	37	11	102734976	102734976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:102734976C>T	uc001phk.2	-	10	1258	c.1213G>A	c.(1213-1215)GAA>AAA	p.E405K		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	405	Hemopexin-like 3.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGTCTCCTTTCATCATACCTG	0.448		NA											5	21					0	0	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1963138	1963138	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:1963138G>A	uc001qjp.2	-	23	2456	c.2225C>T	c.(2224-2226)GCG>GTG	p.A742V	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.A606V|CACNA2D4_uc009zdr.1_RNA	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	742	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GAGGGCCAGCGCTGTCCAGTA	0.617		NA											4	15					0	0	0	0
ANO2	57101	broad.mit.edu	37	12	6055399	6055399	+	Splice_Site	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:6055399G>A	uc001qnm.2	-	1	1	c.-71_splice	c.e1-1			NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2							chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						AGGAGCCTGGGGAAGCAAAGG	0.473		NA											3	45					0	0	0	0
ACSM4	341392	broad.mit.edu	37	12	7469736	7469736	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:7469736C>T	uc001qsx.1	+	4	624	c.624C>T	c.(622-624)TTC>TTT	p.F208F		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	208					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0						TTTGCAGATTCGCCTCTGAAG	0.483		NA											10	23					0	0	0	0
ATF7IP	55729	broad.mit.edu	37	12	14591118	14591118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:14591118G>A	uc001rbw.2	+	5	2004	c.1846G>A	c.(1846-1848)GAT>AAT	p.D616N	ATF7IP_uc010shs.1_Missense_Mutation_p.D615N|ATF7IP_uc001rbu.2_Missense_Mutation_p.D616N|ATF7IP_uc001rbv.1_Missense_Mutation_p.D615N|ATF7IP_uc001rbx.2_Missense_Mutation_p.D615N|ATF7IP_uc010sht.1_Missense_Mutation_p.D616N|ATF7IP_uc001rby.3_Missense_Mutation_p.D616N|ATF7IP_uc001rca.2_Missense_Mutation_p.D616N	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	616	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						TGCTGTATTTGATAAGACTTT	0.383		NA											10	36					0	0	0	0
PTPRO	5800	broad.mit.edu	37	12	15669884	15669884	+	Silent	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:15669884A>T	uc001rcv.1	+	9	1947	c.1773A>T	c.(1771-1773)GCA>GCT	p.A591A	PTPRO_uc001rcw.1_Silent_p.A591A|PTPRO_uc001rcu.1_Silent_p.A591A	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	591	Fibronectin type-III 6.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				CCTTAACTGCATCCGTGGTAA	0.373		NA											59	82					0	0	0	0
PLCZ1	89869	broad.mit.edu	37	12	18872484	18872484	+	Silent	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:18872484A>G	uc010sid.1	-	5	641	c.450T>C	c.(448-450)TGT>TGC	p.C150C	PLCZ1_uc001rdv.3_Silent_p.C46C|PLCZ1_uc001rdw.3_Intron|PLCZ1_uc009zil.1_RNA	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	150					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)					AAACTTTTCTACATTCATTTT	0.279		NA											3	17					0	0	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22487097	22487097	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:22487097G>A	uc001rfo.3	-	1	552	c.70C>T	c.(70-72)CCG>TCG	p.P24S	ST8SIA1_uc009zix.2_5'UTR|uc001rfp.1_Intron	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	24	Cytoplasmic (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						CGGGTCCGCGGGAACTTCCAC	0.692		NA											67	85					0	0	0	0
PTPRB	5787	broad.mit.edu	37	12	70925945	70925945	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:70925945C>A	uc001swb.3	-	30	5750	c.5720G>T	c.(5719-5721)GGT>GTT	p.G1907V	uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.G1817V|PTPRB_uc010stp.1_Missense_Mutation_p.G1817V|PTPRB_uc001swc.3_Missense_Mutation_p.G2125V|PTPRB_uc001swa.3_Missense_Mutation_p.G2037V	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1907	Cytoplasmic (Potential).|Substrate binding (By similarity).|Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCTACCCACACCAGCACTAGA	0.433		NA											11	28					5.51e-06	5.98e-06	1	0
PTPRR	5801	broad.mit.edu	37	12	71078046	71078046	+	Splice_Site	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:71078046T>A	uc001swi.1	-	10	1776	c.1360_splice	c.e10-1	p.G454_splice	PTPRR_uc001swh.1_Splice_Site_p.G209_splice|PTPRR_uc009zrs.2_Splice_Site_p.G303_splice|PTPRR_uc010stq.1_Splice_Site_p.G342_splice|PTPRR_uc010str.1_Splice_Site_p.G303_splice	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACTGTAGCCCTAGATGGAGTA	0.453		NA											14	27					0	0	0	0
HCFC2	29915	broad.mit.edu	37	12	104492210	104492210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:104492210G>T	uc001tkj.3	+	13	1933	c.1830G>T	c.(1828-1830)TTG>TTT	p.L610F	HCFC2_uc009zul.2_RNA	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	610	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			ovary(2)|central_nervous_system(1)	3						ATACAGCTTTGGTGAGCCAGT	0.378		NA											30	42					3.74e-18	4.44e-18	1	0
KIAA1033	23325	broad.mit.edu	37	12	105536970	105536970	+	Silent	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:105536970T>C	uc001tld.2	+	20	2046	c.1959T>C	c.(1957-1959)TAT>TAC	p.Y653Y	KIAA1033_uc010swr.1_Silent_p.Y654Y|KIAA1033_uc010sws.1_Silent_p.Y465Y	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	653					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						TAGAGTCCTATGAGATACTTC	0.333		NA											3	32					0	0	0	0
NUAK1	9891	broad.mit.edu	37	12	106461007	106461007	+	Missense_Mutation	SNP	C	C	T	rs117517173	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:106461007C>T	uc001tlj.1	-	7	2939	c.1559G>A	c.(1558-1560)CGG>CAG	p.R520Q		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	520							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						GCCCTTCCTCCGGCAGGAGAG	0.607		NA											4	96					0	0	0	0
DDX54	79039	broad.mit.edu	37	12	113599728	113599728	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:113599728C>G	uc001tup.2	-	18	2298	c.2270G>C	c.(2269-2271)CGC>CCC	p.R757P	DDX54_uc001tuq.3_Missense_Mutation_p.R757P	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	757					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						GCTGATGTAGCGGCCGCTCTC	0.582		NA											48	92					0	0	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898786	130898786	+	Missense_Mutation	SNP	C	C	T	rs138034003		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:130898786C>T	uc001uil.2	-	14	2700	c.2536G>A	c.(2536-2538)GAA>AAA	p.E846K		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	846						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAGCTCTTCGGCACCAGGG	0.567		NA											29	57					0	0	0	0
FLT1	2321	broad.mit.edu	37	13	28896990	28896990	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr13:28896990C>T	uc001usb.3	-	21	3175	c.2890G>A	c.(2890-2892)GAA>AAA	p.E964K	FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.E89K|FLT1_uc001usa.3_Missense_Mutation_p.E182K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	964	Cytoplasmic (Potential).|Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCAAAGCTTTCGCTGCTGGTG	0.478		NA											4	109					0	0	0	0
FREM2	341640	broad.mit.edu	37	13	39266020	39266021	+	Nonsense_Mutation	DNP	TG	TG	CT			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr13:39266020_39266021TG>CT	uc001uwv.2	+	1	4848_4849	c.4539_4540TG>CT	c.(4537-4542)GATGGA>GACTGA	p.G1514*		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1514	Extracellular (Potential).|CSPG 10.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAGTCACCGATGGACGTAACCC	0.45		NA											18	57					0	0	0	0
DPF3	8110	broad.mit.edu	37	14	73198527	73198527	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr14:73198527G>C	uc001xnc.2	-	4	430	c.417C>G	c.(415-417)ATC>ATG	p.I139M	DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.I139M|DPF3_uc010ttq.1_Missense_Mutation_p.I149M	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	139					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GTATTTCCTGGATGCTTTCCT	0.577		NA											5	16					0	0	0	0
NUMB	8650	broad.mit.edu	37	14	73749071	73749071	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr14:73749071G>T	uc001xny.1	-	11	1412	c.1092C>A	c.(1090-1092)TTC>TTA	p.F364L	NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Missense_Mutation_p.F266L|NUMB_uc010arr.1_Missense_Mutation_p.F255L|NUMB_uc001xoa.1_Missense_Mutation_p.F364L|NUMB_uc001xnz.1_Missense_Mutation_p.F353L|NUMB_uc001xob.1_Missense_Mutation_p.F353L|NUMB_uc001xod.1_Missense_Mutation_p.F364L|NUMB_uc001xoc.1_Missense_Mutation_p.F364L|NUMB_uc010ars.1_Missense_Mutation_p.F353L|NUMB_uc010ttz.1_Missense_Mutation_p.F110L	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	numb homolog isoform 1	364					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				ovary(2)|central_nervous_system(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		accaaccttggaaggtaggag	0.323		NA											7	30					5.18e-06	5.65e-06	1	0
ATP8B4	79895	broad.mit.edu	37	15	50273431	50273431	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:50273431T>G	uc001zxu.2	-	11	951	c.809A>C	c.(808-810)GAT>GCT	p.D270A	ATP8B4_uc010ber.2_Missense_Mutation_p.D143A|ATP8B4_uc010ufd.1_Missense_Mutation_p.D143A|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	270	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATCAATCTATCAATGCTTGT	0.308		NA											6	33					0	0	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58357778	58357778	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:58357778T>C	uc002aex.2	-	1	129	c.71A>G	c.(70-72)CAC>CGC	p.H24R	ALDH1A2_uc002aey.2_Missense_Mutation_p.H24R|ALDH1A2_uc010ugv.1_5'UTR|ALDH1A2_uc010ugw.1_Intron	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	24					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CGGCAGGAGGTGCAGCGACGC	0.652		NA											9	35					0	0	0	0
MFGE8	4240	broad.mit.edu	37	15	89449094	89449094	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:89449094G>A	uc002bng.3	-	5	692	c.579C>T	c.(577-579)GTC>GTT	p.V193V	MFGE8_uc002bnf.3_Silent_p.V81V|MFGE8_uc002bnh.3_Silent_p.V193V|MFGE8_uc010bnn.2_Silent_p.V185V|MFGE8_uc010upq.1_Silent_p.V149V|MFGE8_uc010upr.1_Silent_p.V193V	NM_005928	NP_005919	Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein isoform a	193	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					ovary(1)	1	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAAACAGGTTGACATGCACCG	0.582		NA											22	62					0	0	0	0
TEKT5	146279	broad.mit.edu	37	16	10788293	10788293	+	Silent	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:10788293C>G	uc002czz.1	-	1	510	c.438G>C	c.(436-438)TCG>TCC	p.S146S		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	146	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						AGCCAATGTCCGACAGCCTCT	0.612		NA											31	119					0	0	0	0
ABCC11	85320	broad.mit.edu	37	16	48250115	48250115	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:48250115C>T	uc002eff.1	-	6	1211	c.861G>A	c.(859-861)TCG>TCA	p.S287S	ABCC11_uc002efg.1_Silent_p.S287S|ABCC11_uc002efh.1_Silent_p.S287S|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Silent_p.S287S	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	287	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGATGACCAGCGATGCGCAGG	0.468		NA							Cerumen_Type				27	114					0	0	0	0
SNX20	124460	broad.mit.edu	37	16	50709754	50709754	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:50709754C>A	uc002egk.2	-	3	382	c.209G>T	c.(208-210)CGC>CTC	p.R70L	SNX20_uc010vgp.1_Missense_Mutation_p.R70L|SNX20_uc002egi.3_Missense_Mutation_p.R70L	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	70					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						GTGCTTCCAGCGGCATTTCTG	0.522		NA											12	57					0.000978159	0.00101578	1	0
ZNF276	92822	broad.mit.edu	37	16	89789220	89789220	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:89789220G>A	uc002fos.3	+	2	584	c.487G>A	c.(487-489)GGT>AGT	p.G163S	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Missense_Mutation_p.G88S|ZNF276_uc002foq.3_Missense_Mutation_p.G88S|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCCCGGCTGGTCGCCGGAA	0.592		NA											7	45					0	0	0	0
DHX33	56919	broad.mit.edu	37	17	5365857	5365857	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:5365857T>C	uc002gca.2	-	3	462	c.460A>G	c.(460-462)ACA>GCA	p.T154A	DHX33_uc002gbz.2_5'Flank|DHX33_uc002gcb.2_Translation_Start_Site|DHX33_uc010clf.2_Intron	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	154	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2						AAGCGCACTGTATAGCCAACC	0.294		NA											18	60					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:7577574T>C	uc002gim.2	-	7	901	c.707A>G	c.(706-708)TAC>TGC	p.Y236C	TP53_uc002gig.1_Missense_Mutation_p.Y236C|TP53_uc002gih.2_Missense_Mutation_p.Y236C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y104C|TP53_uc010cng.1_Missense_Mutation_p.Y104C|TP53_uc002gii.1_Missense_Mutation_p.Y104C|TP53_uc010cnh.1_Missense_Mutation_p.Y236C|TP53_uc010cni.1_Missense_Mutation_p.Y236C|TP53_uc002gij.2_Missense_Mutation_p.Y236C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y143C|TP53_uc002gio.2_Missense_Mutation_p.Y104C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	236	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> S (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236C(46)|p.Y236N(12)|p.Y236*(9)|p.Y236H(9)|p.0?(7)|p.Y236D(6)|p.Y236del(4)|p.Y236S(3)|p.Y236Y(2)|p.Y236fs*4(2)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.Y236fs*5(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTACACATGTAGTTGTAGTG	0.572		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			30	29					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:7578212G>A	uc002gim.2	-	6	831	c.637C>T	c.(637-639)CGA>TGA	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	25					0	0	0	0
PFAS	5198	broad.mit.edu	37	17	8170695	8170695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:8170695C>T	uc002gkr.2	+	25	3322	c.3181C>T	c.(3181-3183)CCC>TCC	p.P1061S	PFAS_uc010vuv.1_Missense_Mutation_p.P637S|PFAS_uc002gks.2_Missense_Mutation_p.P140S	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1061					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAAGGTGGTCCCAGCCCCCG	0.607		NA											70	110					0	0	0	0
ZNF18	7566	broad.mit.edu	37	17	11895778	11895778	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:11895778G>A	uc002gng.1	-	4	974	c.369C>T	c.(367-369)CCC>CCT	p.P123P	ZNF18_uc002gnh.1_Silent_p.P123P|ZNF18_uc002gni.1_Silent_p.P123P	NM_144680	NP_653281	P17022	ZNF18_HUMAN	zinc finger protein 18	123	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ACAGTCTCTGGGGGTCCCCCT	0.512		NA											25	33					0	0	0	0
USP22	23326	broad.mit.edu	37	17	20924462	20924462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:20924462C>T	uc002gym.3	-	3	586	c.382G>A	c.(382-384)GCC>ACC	p.A128T	USP22_uc002gyn.3_Missense_Mutation_p.A116T|USP22_uc002gyl.3_Missense_Mutation_p.A23T	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	128					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						TCCTCCTTGGCGATTATTTCC	0.483		NA											18	28					0	0	0	0
MAP2K3	5606	broad.mit.edu	37	17	21215472	21215472	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:21215472C>T	uc002gys.2	+	10	1058	c.793C>T	c.(793-795)CGG>TGG	p.R265W	MAP2K3_uc002gyt.2_Missense_Mutation_p.R236W|MAP2K3_uc002gyu.2_Missense_Mutation_p.R236W	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	265	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GGCCATCCTGCGGTTCCCTTA	0.677		NA											4	48					0	0	0	0
MYO19	80179	broad.mit.edu	37	17	34863298	34863298	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:34863298G>C	uc010wcy.1	-	17	2399	c.1407C>G	c.(1405-1407)AAC>AAG	p.N469K	MYO19_uc002hmw.2_Intron|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	469	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AACAGGGCTGGTTGTCCTGGT	0.542		NA											39	32					0	0	0	0
PNMT	5409	broad.mit.edu	37	17	37826489	37826489	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:37826489G>A	uc002hsi.1	+	3	918	c.696G>A	c.(694-696)GTG>GTA	p.V232V		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	232					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGACGGTGGTGCCAGTGTCTG	0.662		NA											9	4					0	0	0	0
ERBB2	2064	broad.mit.edu	37	17	37865676	37865676	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:37865676C>T	uc002hso.2	+	4	783	c.545C>T	c.(544-546)ACA>ATA	p.T182I	ERBB2_uc002hsm.2_Missense_Mutation_p.T152I|ERBB2_uc010cwa.2_Missense_Mutation_p.T167I|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Missense_Mutation_p.T182I|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.T152I|ERBB2_uc002hsn.1_Missense_Mutation_p.T182I	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	182	Extracellular (Potential).				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			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)	CTGGCTCTCACACTGATAGAC	0.562		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			14	36					0	0	0	0
TMUB2	79089	broad.mit.edu	37	17	42266692	42266692	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:42266692C>T	uc002ifo.2	+	3	495	c.338C>T	c.(337-339)GCG>GTG	p.A113V	C17orf65_uc002ifn.2_5'Flank|TMUB2_uc002ifp.2_Missense_Mutation_p.A93V|TMUB2_uc010wiu.1_Intron|TMUB2_uc002ifq.2_Missense_Mutation_p.A113V|TMUB2_uc002ifr.2_Intron|TMUB2_uc002ifs.2_Intron|TMUB2_uc002ift.2_Missense_Mutation_p.A93V|TMUB2_uc002ifu.2_Intron|TMUB2_uc002ifv.2_Missense_Mutation_p.A93V|TMUB2_uc002ifw.1_Missense_Mutation_p.A93V|TMUB2_uc002ifx.2_Intron|TMUB2_uc002ify.2_Intron	NM_001076674	NP_001070142	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain	113						integral to membrane				lung(1)	1		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTGAAGAGGCGGGTGAAGGT	0.612		NA											3	54					0	0	0	0
EFTUD2	9343	broad.mit.edu	37	17	42940103	42940103	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:42940103G>A	uc002ihn.2	-	16	1846	c.1585C>T	c.(1585-1587)CGC>TGC	p.R529C	EFTUD2_uc010wje.1_Missense_Mutation_p.R494C|EFTUD2_uc010wjf.1_Missense_Mutation_p.R519C	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	529						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				ATCCAAAGGCGGCCCACGGTG	0.597		NA											3	24					0	0	0	0
ERN1	2081	broad.mit.edu	37	17	62126509	62126509	+	Silent	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:62126509A>T	uc002jdz.2	-	18	2420	c.2307T>A	c.(2305-2307)TCT>TCA	p.S769S		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	769	Cytoplasmic (Potential).|Protein kinase.		S -> F (in a glioblastoma multiforme sample; somatic mutation).		activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S769F(1)		central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						GGCTGCCCTCAGAGATTACGT	0.557		NA											18	23					0	0	0	0
CACNG4	27092	broad.mit.edu	37	17	65026643	65026643	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:65026643C>A	uc002jft.1	+	4	522	c.507C>A	c.(505-507)GAC>GAA	p.D169E		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	voltage-dependent calcium channel gamma-4	169	Extracellular (Potential).				membrane depolarization|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 activity			central_nervous_system(1)	1	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ACCCGAGTGACAAGCGGGACG	0.547		NA											35	72					2.68e-12	3.12e-12	1	0
ZACN	353174	broad.mit.edu	37	17	74077642	74077642	+	Missense_Mutation	SNP	C	C	T	rs140656208	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:74077642C>T	uc002jqn.2	+	7	769	c.686C>T	c.(685-687)ACG>ATG	p.T229M	ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_Intron|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	229	Extracellular (Potential).|Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity				0						CTGAAGAACACGGCGCTCAAG	0.662		NA											30	83					0	0	0	0
CCDC57	284001	broad.mit.edu	37	17	80121141	80121141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:80121141C>T	uc002kdz.1	-	14	2330	c.1975G>A	c.(1975-1977)GCA>ACA	p.A659T	CCDC57_uc002kdx.1_Missense_Mutation_p.A659T|CCDC57_uc010dik.1_Missense_Mutation_p.A167T	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	659										ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TTCCTGAGTGCCAGTCCAGAG	0.587		NA											4	119					0	0	0	0
ZNF750	79755	broad.mit.edu	37	17	80790065	80790065	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:80790065T>A	uc002kga.2	-	2	577	c.266A>T	c.(265-267)AAG>ATG	p.K89M	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	89						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)			TGCGACAGACTTGGAAGAGGC	0.557		NA											22	52					0	0	0	0
WDR7	23335	broad.mit.edu	37	18	54385258	54385258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr18:54385258C>T	uc002lgk.1	+	13	1853	c.1642C>T	c.(1642-1644)CGA>TGA	p.R548*	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Nonsense_Mutation_p.R548*	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	548										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		TCTAAGTTTGCGAGAGAAAAA	0.408		NA											21	35					0	0	0	0
AP3D1	8943	broad.mit.edu	37	19	2121212	2121212	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:2121212G>A	uc002luz.2	-	13	1423	c.1200C>T	c.(1198-1200)ATC>ATT	p.I400I	AP3D1_uc002luy.2_Silent_p.I309I|AP3D1_uc002lva.2_Silent_p.I400I	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	400	HEAT 8.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGTCAATGATCTTGGTGA	0.582		NA											26	26					0	0	0	0
PIN1	5300	broad.mit.edu	37	19	9959816	9959816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:9959816G>A	uc002mml.1	+	4	455	c.433G>A	c.(433-435)GAG>AAG	p.E145K	PIN1_uc002mmm.1_3'UTR|PIN1_uc002mmn.1_RNA	NM_006221	NP_006212	Q13526	PIN1_HUMAN	protein (peptidyl-prolyl cis/trans isomerase)	145	PpiC.				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(1)	1						GCGGACGGGGGAGATGAGCGG	0.687		NA											11	22					0	0	0	0
KEAP1	9817	broad.mit.edu	37	19	10600447	10600447	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:10600447G>A	uc002moq.1	-	4	1564	c.1408C>T	c.(1408-1410)CGT>TGT	p.R470C	KEAP1_uc002mop.1_Missense_Mutation_p.R188C|KEAP1_uc002mor.1_Missense_Mutation_p.R470C	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470	Kelch 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TAAAGGAGACGATTGAGGACA	0.557		NA											16	13					0	0	0	0
SLC27A1	376497	broad.mit.edu	37	19	17597588	17597588	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:17597588C>T	uc002ngu.1	+	2	434	c.384C>T	c.(382-384)GGC>GGT	p.G128G	SLC27A1_uc002ngt.1_Intron|SLC27A1_uc010xpp.1_5'UTR	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	128	Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						TCGCGCCGGGCGACGTGGTGG	0.697		NA											6	9					0	0	0	0
ZNF100	163227	broad.mit.edu	37	19	21948566	21948566	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:21948566C>T	uc002nqi.2	-	2	225	c.26G>A	c.(25-27)TGT>TAT	p.C9Y		NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTGAGAGGACACATTCCATA	0.468		NA											17	45					0	0	0	0
ZNF208	7757	broad.mit.edu	37	19	22155123	22155123	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:22155123T>G	uc002nqp.2	-	5	2562	c.2413A>C	c.(2413-2415)ACT>CCT	p.T805P	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCATGTTTAGTAAGGATGGAG	0.378		NA											8	28					0	0	0	0
ZFP30	22835	broad.mit.edu	37	19	38127001	38127001	+	Silent	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:38127001C>G	uc002ogv.1	-	6	957	c.441G>C	c.(439-441)CTG>CTC	p.L147L	ZFP30_uc002ogw.1_Silent_p.L147L|ZFP30_uc002ogx.1_Silent_p.L147L|ZFP30_uc010xtt.1_Silent_p.L146L	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	147					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)			TTTTCTGATACAGAGGAAGAG	0.393		NA											22	150					0	0	0	0
NUMBL	9253	broad.mit.edu	37	19	41188693	41188693	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:41188693G>A	uc002oon.2	-	5	507	c.339C>T	c.(337-339)TCC>TCT	p.S113S	NUMBL_uc010xvq.1_Silent_p.S72S|NUMBL_uc002ooo.2_Silent_p.S113S|NUMBL_uc010xvr.1_Silent_p.S72S	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	113	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAGACTTCACGGACTTTCGGC	0.652		NA											17	133					0	0	0	0
GRLF1	2909	broad.mit.edu	37	19	47423172	47423172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:47423172C>T	uc010ekv.2	+	1	1240	c.1240C>T	c.(1240-1242)CAG>TAG	p.Q414*		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	414	FF 2.			Q -> A (in Ref. 1; AAF80386 and 6; AAA58618).	axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		CCCTGCAGAGCAGCTATACGA	0.468		NA											73	30					0	0	0	0
KDELR1	10945	broad.mit.edu	37	19	48887692	48887692	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:48887692C>T	uc002pjb.1	-	4	594	c.399G>A	c.(397-399)CCG>CCA	p.P133P	KDELR1_uc002pja.1_Silent_p.P71P	NM_006801	NP_006792	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum	133	Helical; (Potential).				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity				0		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TGAACAGCTGCGGCAAGATGG	0.582		NA											10	8					0	0	0	0
KLK4	9622	broad.mit.edu	37	19	51411651	51411651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:51411651G>T	uc002pua.1	-	4	576	c.576C>A	c.(574-576)TGC>TGA	p.C192*	KLK4_uc002pty.1_Intron|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Nonsense_Mutation_p.C97*|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_3'UTR|KLK4_uc002pud.1_Nonsense_Mutation_p.C97*	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	192	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CTCCGCCGGCGCAGAACATGC	0.622		NA											56	52					6.31e-27	7.68e-27	1	0
ZNF320	162967	broad.mit.edu	37	19	53384345	53384345	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:53384345T>A	uc002qag.2	-	4	1225	c.1034A>T	c.(1033-1035)GAA>GTA	p.E345V	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.E291V|ZNF320_uc002qai.2_Missense_Mutation_p.E345V	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	345	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		CCTATGTCTTTCAAGATGTGA	0.428		NA											66	25					0	0	0	0
TMEM150B	284417	broad.mit.edu	37	19	55831420	55831420	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:55831420A>T	uc010esw.1	-	6	484	c.311T>A	c.(310-312)GTA>GAA	p.V104E	TMEM150B_uc010yfu.1_Missense_Mutation_p.V104E|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA|TMEM150B_uc002qki.2_Missense_Mutation_p.V104E	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	transmembrane protein 150B precursor	104	Helical; (Potential).					integral to membrane					0						GAAATTGCCTACCACGGAGGT	0.617		NA											63	12					0	0	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565249	58565249	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:58565249C>T	uc002qrc.1	+	6	1304	c.1057C>T	c.(1057-1059)CGG>TGG	p.R353W		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAAAGCCCCCCGGAGCAAGGG	0.662		NA											27	11					0	0	0	0
ASAP2	8853	broad.mit.edu	37	2	9528612	9528612	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:9528612G>C	uc002qzh.2	+	22	2660	c.2320G>C	c.(2320-2322)GCC>CCC	p.A774P	ASAP2_uc002qzi.2_Missense_Mutation_p.A774P	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	774	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						CCCACCTCCCGCCCAGCCTGC	0.587		NA											4	23					0	0	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530203	80530203	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:80530203C>T	uc002sok.1	-	2	1012	c.742G>A	c.(742-744)GTG>ATG	p.V248M	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	248	LRR 7.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GAGCTGACCACAATGGCCACC	0.592		NA								HNSCC(69;0.2)			18	55					0	0	0	0
PROM2	150696	broad.mit.edu	37	2	95947688	95947688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:95947688G>A	uc002suh.1	+	13	1700	c.1567G>A	c.(1567-1569)GGG>AGG	p.G523R	PROM2_uc002sui.2_Missense_Mutation_p.G523R|PROM2_uc002suj.2_Missense_Mutation_p.G177R|PROM2_uc002suk.2_Missense_Mutation_p.G523R|PROM2_uc002sul.2_Missense_Mutation_p.G49R|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	523	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						AGACACCCCAGGGAACCTGCC	0.627		NA											19	39					0	0	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993685	96993685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:96993685C>T	uc002svx.2	+	3	1651	c.1316C>T	c.(1315-1317)GCA>GTA	p.A439V	ITPRIPL1_uc010yuk.1_Missense_Mutation_p.A431V|ITPRIPL1_uc002svy.2_Missense_Mutation_p.A447V|ITPRIPL1_uc010yul.1_Missense_Mutation_p.A431V	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-triphosphate receptor interacting	439	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(2)|ovary(1)	3						CCCCATGGAGCATCCCGCCCC	0.562		NA											42	67					0	0	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135911438	135911438	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:135911438G>A	uc002tuj.2	+	19	2306	c.2281G>A	c.(2281-2283)GCA>ACA	p.A761T	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.A761T|RAB3GAP1_uc010fng.2_Missense_Mutation_p.A586T|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	761						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		TACACGGGAAGCAGAAAAGGT	0.418		NA											5	36					0	0	0	0
ZEB2	9839	broad.mit.edu	37	2	145187516	145187516	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:145187516C>T	uc002tvu.2	-	3	631	c.151G>A	c.(151-153)GGT>AGT	p.G51S	ZEB2_uc002tvv.2_Missense_Mutation_p.G46S|ZEB2_uc010zbm.1_Missense_Mutation_p.G46S|ZEB2_uc010fnp.2_Missense_Mutation_p.G46S|ZEB2_uc010fnq.1_Missense_Mutation_p.G80S|ZEB2_uc002tvw.2_Missense_Mutation_p.G46S	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	51						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)		TTGGCAATACCGTCATCCTCA	0.502		NA											12	79					0	0	0	0
SSFA2	6744	broad.mit.edu	37	2	182783567	182783567	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:182783567G>A	uc002uoi.2	+	13	3273	c.2951G>A	c.(2950-2952)CGT>CAT	p.R984H	SSFA2_uc002uoh.2_Missense_Mutation_p.R984H|SSFA2_uc002uoj.2_Missense_Mutation_p.R984H|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.R831H|SSFA2_uc002uol.2_Missense_Mutation_p.R831H|SSFA2_uc002uom.2_Missense_Mutation_p.R452H	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	984	Potential.					cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCAATGCTGCGTCAGCAAACC	0.383		NA											19	64					0	0	0	0
KIF1A	547	broad.mit.edu	37	2	241706365	241706365	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:241706365C>T	uc002vzy.2	-	18	1770	c.1624G>A	c.(1624-1626)GTC>ATC	p.V542I	KIF1A_uc010fzk.2_Missense_Mutation_p.V551I|KIF1A_uc002vzz.1_Missense_Mutation_p.V551I	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	542	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCCGGAAGACGCAGTGCTCC	0.637		NA											4	8					0	0	0	0
SUN5	140732	broad.mit.edu	37	20	31583478	31583478	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr20:31583478T>A	uc002wyi.2	-	8	574	c.481A>T	c.(481-483)AGC>TGC	p.S161C		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	161	Potential.				spermatogenesis					skin(1)	1						TGGTTCATGCTACCTCGGAGG	0.478		NA											44	246					0	0	0	0
ZHX3	23051	broad.mit.edu	37	20	39832157	39832157	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr20:39832157G>A	uc002xjs.1	-	3	1778	c.1400C>T	c.(1399-1401)ACG>ATG	p.T467M	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.T467M|ZHX3_uc002xjt.1_Missense_Mutation_p.T467M|ZHX3_uc002xju.1_Missense_Mutation_p.T467M|ZHX3_uc002xjv.1_Missense_Mutation_p.T467M|ZHX3_uc002xjw.1_Missense_Mutation_p.T467M|ZHX3_uc010ggg.1_Missense_Mutation_p.T467M	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	467	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				CACAGCTGACGTTGTATTTGA	0.542		NA											6	20					0	0	0	0
DIDO1	11083	broad.mit.edu	37	20	61512534	61512534	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr20:61512534C>T	uc002ydr.1	-	16	5038	c.4774G>A	c.(4774-4776)GAG>AAG	p.E1592K	DIDO1_uc002yds.1_Missense_Mutation_p.E1592K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1592					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GCATCTCTCTCGGGCAGGGCA	0.711		NA											13	15					0	0	0	0
PWP2	5822	broad.mit.edu	37	21	45535281	45535281	+	Splice_Site	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr21:45535281G>A	uc002zeb.2	+	6	696	c.606_splice	c.e6+1	p.D202_splice		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog							cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CAGCCTGGACGTATGTCCCTT	0.602		NA											28	84					0	0	0	0
C21orf58	54058	broad.mit.edu	37	21	47737166	47737166	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr21:47737166C>A	uc002zjf.2	-	4	1460	c.326G>T	c.(325-327)CGG>CTG	p.R109L	C21orf58_uc002ziz.2_Missense_Mutation_p.R26L|C21orf58_uc002zja.2_5'UTR|C21orf58_uc011afw.1_Missense_Mutation_p.R26L|C21orf58_uc002zjc.2_5'UTR|C21orf58_uc011afx.1_5'UTR|C21orf58_uc010gqj.1_RNA|C21orf58_uc002zjg.1_RNA	NM_058180	NP_478060	P58505	CU058_HUMAN	hypothetical protein LOC54058	109										pancreas(1)	1	Breast(49;0.112)			Colorectal(79;0.239)		CACGTTCTGCCGTTCTTGCTC	0.597		NA											10	9					0.000673444	0.000700932	1	0
EP300	2033	broad.mit.edu	37	22	41566521	41566521	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr22:41566521G>C	uc003azl.3	+	27	4793	c.4398G>C	c.(4396-4398)TGG>TGC	p.W1466C		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1466					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						TGCAGGAATGGTACAAAAAAA	0.473		NA	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				30	50					0	0	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654890	46654890	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr22:46654890T>C	uc003bhh.2	-	1	4330	c.4330A>G	c.(4330-4332)ATA>GTA	p.I1444V		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1444	Helical; (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAAAAGTTATTAATAATTGC	0.378		NA											17	55					0	0	0	0
SUMF1	285362	broad.mit.edu	37	3	4494724	4494724	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:4494724T>C	uc003bpz.1	-	2	305	c.280A>G	c.(280-282)ATC>GTC	p.I94V	SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.I94V|SUMF1_uc010hby.1_Missense_Mutation_p.I94V|SUMF1_uc011ast.1_Missense_Mutation_p.I94V	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1 isoform 1	94						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			upper_aerodigestive_tract(1)	1		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CCAGCAGGGATGGGGACCATC	0.488		NA											5	11					0	0	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307562	39307562	+	Missense_Mutation	SNP	C	C	T	rs3732380	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:39307562C>T	uc003cjl.2	-	2	531	c.439G>A	c.(439-441)GTC>ATC	p.V147I		NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	147	Helical; Name=4; (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			lung(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CTGATGGTGACGCCATGCTGC	0.527		NA											4	48					0	0	0	0
BSN	8927	broad.mit.edu	37	3	49689861	49689861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:49689861C>T	uc003cxe.3	+	5	2986	c.2872C>T	c.(2872-2874)CGG>TGG	p.R958W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	958					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGTCTGGACCGGGAGCCTGA	0.622		NA											43	14					0	0	0	0
DNAH1	25981	broad.mit.edu	37	3	52383302	52383302	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:52383302C>G	uc011bef.1	+	14	2653	c.2392C>G	c.(2392-2394)CCC>GCC	p.P798A	DNAH1_uc003ddt.1_Missense_Mutation_p.P798A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	798	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCTCGCTGCCCAGCAGCAT	0.592		NA											20	8					0	0	0	0
C3orf63	23272	broad.mit.edu	37	3	56667140	56667140	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:56667140C>T	uc003did.3	-	17	3597	c.3496G>A	c.(3496-3498)GTC>ATC	p.V1166I	C3orf63_uc003dib.3_Missense_Mutation_p.V285I|C3orf63_uc003dic.3_Missense_Mutation_p.V790I|C3orf63_uc003die.3_Missense_Mutation_p.V1227I	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1227										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		TTTTTCTGGACGTCTTTCATG	0.328		NA											30	18					0	0	0	0
IMPG2	50939	broad.mit.edu	37	3	101038496	101038496	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:101038496A>T	uc003duq.1	-	2	469	c.266T>A	c.(265-267)GTG>GAG	p.V89E	IMPG2_uc011bhe.1_5'UTR	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	89	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GCAGATTTTCACTCCATTAGG	0.433		NA											67	30					0	0	0	0
CBLB	868	broad.mit.edu	37	3	105456100	105456100	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:105456100T>C	uc003dwc.2	-	8	1308	c.986A>G	c.(985-987)TAT>TGT	p.Y329C	CBLB_uc011bhi.1_Missense_Mutation_p.Y351C|CBLB_uc003dwd.1_Missense_Mutation_p.Y329C|CBLB_uc003dwe.1_Missense_Mutation_p.Y329C|CBLB_uc011bhj.1_RNA	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	329	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						AGGATAAAGATAACTGAATTT	0.279		NA	Mis S		AML								25	15					0	0	0	0
PLCH1	23007	broad.mit.edu	37	3	155199373	155199373	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:155199373G>T	uc011bok.1	-	23	4743	c.4466C>A	c.(4465-4467)CCT>CAT	p.P1489H	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.P1451H	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1489					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)			GGATTTGCAAGGACTAGGCAG	0.468		NA											13	59					6.32e-08	7.07e-08	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906141	164906141	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:164906141C>A	uc003fej.3	-	2	2922	c.2478G>T	c.(2476-2478)CAG>CAT	p.Q826H	SLITRK3_uc003fek.2_Missense_Mutation_p.Q826H	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	826	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						TGGTGTTAAGCTGGGAGCTGG	0.547		NA								HNSCC(40;0.11)			39	73					6.03e-08	6.76e-08	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906887	164906887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:164906887C>T	uc003fej.3	-	2	2176	c.1732G>A	c.(1732-1734)GAA>AAA	p.E578K	SLITRK3_uc003fek.2_Missense_Mutation_p.E578K	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	578	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						CTGATGGTTTCGATCCACTGT	0.517		NA								HNSCC(40;0.11)			6	69					0	0	0	0
MECOM	2122	broad.mit.edu	37	3	168838896	168838896	+	Silent	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:168838896C>A	uc003ffi.3	-	6	785	c.516G>T	c.(514-516)TCG>TCT	p.S172S	MECOM_uc010hwk.1_Silent_p.S195S|MECOM_uc003ffj.3_Silent_p.S237S|MECOM_uc011bpi.1_Silent_p.S173S|MECOM_uc003ffn.3_Silent_p.S172S|MECOM_uc003ffk.2_Silent_p.S172S|MECOM_uc003ffl.2_Silent_p.S332S|MECOM_uc011bpj.1_Silent_p.S360S|MECOM_uc011bpk.1_Silent_p.S162S|MECOM_uc010hwn.2_Silent_p.S360S	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	172	C2H2-type 5.|Interaction with MAPK9, SMAD3 and probably SUV39H1.				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						TGAGGCCCGACGAAGTGGCAA	0.552		NA											19	39					5.04e-11	5.82e-11	1	0
GABRB1	2560	broad.mit.edu	37	4	47428009	47428009	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:47428009G>T	uc003gxh.2	+	9	1773	c.1399G>T	c.(1399-1401)GTC>TTC	p.V467F	GABRB1_uc011bze.1_Missense_Mutation_p.V397F	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	467	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTAATGTCGTCTATTGGCT	0.418		NA											46	27					8.05e-23	9.67e-23	1	0
PF4V1	5197	broad.mit.edu	37	4	74719102	74719102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:74719102G>A	uc003hhg.1	+	1	90	c.23G>A	c.(22-24)CGC>CAC	p.R8H		NM_002620	NP_002611	P10720	PF4V_HUMAN	platelet factor 4 variant 1	8					immune response	extracellular region	chemokine activity|heparin binding				0	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCCAGGTCCCGCCTCACCCGC	0.652		NA											3	11					0	0	0	0
SCLT1	132320	broad.mit.edu	37	4	130014244	130014244	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:130014244G>C	uc003igp.2	-	1	521	c.15C>G	c.(13-15)ATC>ATG	p.I5M	C4orf33_uc010ioc.1_5'Flank|C4orf33_uc003igu.3_5'Flank|SCLT1_uc003igq.2_Missense_Mutation_p.I5M|SCLT1_uc010iob.1_Missense_Mutation_p.I5M|SCLT1_uc003igr.2_Missense_Mutation_p.I5M|SCLT1_uc003igs.2_Intron|SCLT1_uc003igt.3_Missense_Mutation_p.I5M	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	5						centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						TCAGAAAGTCGATTTCTGCAG	0.383		NA											29	15					0	0	0	0
SLC7A11	23657	broad.mit.edu	37	4	139103507	139103507	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:139103507T>C	uc011chb.1	-	9	1340	c.1060A>G	c.(1060-1062)ATC>GTC	p.I354V		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	solute carrier family 7, (cationic amino acid	354	Cytoplasmic (Potential).				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			skin(1)	1	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ATGGAGAGGATTTCTGGAAGG	0.393		NA											16	8					0	0	0	0
PRSS48	345062	broad.mit.edu	37	4	152212572	152212572	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:152212572G>C	uc011cif.1	+	5	954	c.954G>C	c.(952-954)GAG>GAC	p.E318D	PRSS48_uc011cig.1_Missense_Mutation_p.E175D	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	epidermis-specific serine protease-like protein	318					proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)	1						GCTGGGAAGAGAATGCATGGA	0.473		NA											16	6					0	0	0	0
FSTL5	56884	broad.mit.edu	37	4	162307172	162307172	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:162307172G>A	uc003iqh.2	-	16	2707	c.2271C>T	c.(2269-2271)TAC>TAT	p.Y757Y	FSTL5_uc003iqi.2_Silent_p.Y756Y|FSTL5_uc010iqv.2_Silent_p.Y747Y|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	757						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGAACTACCGTAGATGTTAT	0.418		NA											4	69					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187524462	187524463	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:187524462_187524463CC>AA	uc003izf.2	-	19	11405_11406	c.11217_11218GG>TT	c.(11215-11220)GCGGGA>GCTTGA	p.G3740*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3740	Extracellular (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CAGTCCAGTCCCGCGCAGAGTT	0.465		NA								HNSCC(5;0.00058)			17	8					0	0	0	0
TRIML2	205860	broad.mit.edu	37	4	189022227	189022227	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:189022227A>G	uc003izl.2	-	3	349	c.313T>C	c.(313-315)TTC>CTC	p.F105L	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.F155L|TRIML2_uc011clf.1_Missense_Mutation_p.F155L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	105	Potential.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATTTCCTGGAACATCTCCTCT	0.398		NA											11	15					0	0	0	0
CDH9	1007	broad.mit.edu	37	5	26885873	26885873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:26885873G>A	uc003jgs.1	-	11	1901	c.1732C>T	c.(1732-1734)CAA>TAA	p.Q578*	CDH9_uc011cnv.1_Nonsense_Mutation_p.Q171*	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	578	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						GTGCTGCTTTGAATTGGATAA	0.458		NA											5	24					0	0	0	0
MAST4	375449	broad.mit.edu	37	5	66426148	66426148	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:66426148G>A	uc003jut.1	+	14	1357	c.1289G>A	c.(1288-1290)CGG>CAG	p.R430Q	MAST4_uc003juu.1_Missense_Mutation_p.R440Q|MAST4_uc011cra.1_Missense_Mutation_p.R413Q|MAST4_uc003juv.2_Missense_Mutation_p.R425Q|MAST4_uc003juw.2_Missense_Mutation_p.R425Q	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	622	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTTGTGGAGCGGGATATCCTG	0.458		NA											20	19					0	0	0	0
RAD50	10111	broad.mit.edu	37	5	131915147	131915147	+	Silent	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:131915147A>G	uc003kxi.2	+	4	891	c.504A>G	c.(502-504)GAA>GAG	p.E168E	RAD50_uc003kxg.1_Silent_p.E69E|RAD50_uc003kxh.2_Silent_p.E29E	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	168					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTTAAGTGAAGGAAAGGCTT	0.348		NA						Homologous_recombination					44	11					0	0	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215594	140215594	+	Silent	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:140215594G>T	uc003lhq.2	+	1	1626	c.1626G>T	c.(1624-1626)GTG>GTT	p.V542V	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.V542V	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	542	Cadherin 5.|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)			ATGCGGGCGTGCCGCCTCTGG	0.692		NA											51	67					8.72e-27	1.06e-26	1	0
PCDHB11	56125	broad.mit.edu	37	5	140580973	140580973	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:140580973C>T	uc003liy.2	+	1	1626	c.1626C>T	c.(1624-1626)AGC>AGT	p.S542S	PCDHB11_uc011daj.1_Silent_p.S177S	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	542	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTTTGAGCAGCGAGGCGC	0.692		NA											31	21					0	0	0	0
FOXF2	2295	broad.mit.edu	37	6	1395022	1395022	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:1395022C>T	uc003mtm.2	+	2	1377	c.1263C>T	c.(1261-1263)CCC>CCT	p.P421P	FOXF2_uc003mtn.2_Intron	NM_001452	NP_001443	Q12947	FOXF2_HUMAN	forkhead box F2	421					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTTTCCATCCCTCAGCTAGCG	0.507		NA											25	45					0	0	0	0
CCHCR1	54535	broad.mit.edu	37	6	31113227	31113227	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:31113227C>G	uc003nsr.3	-	12	1593	c.1470G>C	c.(1468-1470)GAG>GAC	p.E490D	CCHCR1_uc011dne.1_Missense_Mutation_p.E490D|CCHCR1_uc003nsq.3_Missense_Mutation_p.E543D|CCHCR1_uc003nsp.3_Missense_Mutation_p.E579D|CCHCR1_uc010jsk.1_Missense_Mutation_p.E490D	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	490					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						AACTTCACCTCTCCTGGCGCA	0.557		NA											6	31					0	0	0	0
FGD2	221472	broad.mit.edu	37	6	36993640	36993640	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:36993640C>T	uc010jwp.1	+	14	1702	c.1531C>T	c.(1531-1533)CTC>TTC	p.L511F	FGD2_uc003ong.2_Missense_Mutation_p.L233F|FGD2_uc011dtv.1_Missense_Mutation_p.L139F|FGD2_uc003onj.1_Missense_Mutation_p.L88F	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	511	FYVE-type.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						CCGAGTCTGCCTCCACTGCTA	0.622		NA											36	7					0	0	0	0
ZNF451	26036	broad.mit.edu	37	6	56997884	56997884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:56997884C>T	uc003pdm.1	+	6	693	c.469C>T	c.(469-471)CGA>TGA	p.R157*	ZNF451_uc003pdl.2_Nonsense_Mutation_p.R157*|ZNF451_uc003pdn.1_Nonsense_Mutation_p.R157*|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Nonsense_Mutation_p.R157*	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGTTCATTCCGAAGAGGAGG	0.393		NA											15	44					0	0	0	0
SH3BGRL2	83699	broad.mit.edu	37	6	80406206	80406206	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:80406206A>T	uc003piz.1	+	3	415	c.236A>T	c.(235-237)TAT>TTT	p.Y79F		NM_031469	NP_113657	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein	79						nucleus	SH3 domain binding				0		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TTCTAGGATTATGACAGTTTT	0.308		NA											42	19					0	0	0	0
MCHR2	84539	broad.mit.edu	37	6	100382303	100382303	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:100382303C>A	uc003pqh.1	-	5	993	c.678G>T	c.(676-678)GAG>GAT	p.E226D	MCHR2_uc003pqi.1_Missense_Mutation_p.E226D	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	226	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTTGATACATCTCCCAAGTAT	0.303		NA											14	54					1.58e-08	1.79e-08	1	0
LAMA2	3908	broad.mit.edu	37	6	129637295	129637295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:129637295G>A	uc003qbn.2	+	27	4142	c.4037G>A	c.(4036-4038)GGA>GAA	p.G1346E	LAMA2_uc003qbo.2_Missense_Mutation_p.G1346E	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1346	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTACTTATGGAAATTTCATG	0.343		NA											14	15					0	0	0	0
TMEM184A	202915	broad.mit.edu	37	7	1590490	1590490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:1590490G>T	uc003skv.3	-	3	665	c.348C>A	c.(346-348)TAC>TAA	p.Y116*	TMEM184A_uc003skt.3_5'UTR|TMEM184A_uc003skw.3_5'UTR	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	116						integral to membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		AGTAGACGTAGTACTGGTGGT	0.642		NA											33	20					7.64e-26	9.22e-26	1	0
GLCCI1	113263	broad.mit.edu	37	7	8126118	8126118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:8126118G>A	uc003srk.2	+	8	2153	c.1594G>A	c.(1594-1596)GAA>AAA	p.E532K		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	532											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCTCCTGCAGGAACTGCAGGG	0.547		NA											49	152					0	0	0	0
MPP6	51678	broad.mit.edu	37	7	24705286	24705286	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:24705286G>A	uc003swx.2	+	8	1162	c.863G>A	c.(862-864)AGA>AAA	p.R288K	MPP6_uc003swy.2_Missense_Mutation_p.R288K|MPP6_uc010kur.2_5'Flank	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	288					protein complex assembly		protein binding				0						GCATTTGTTAGAAGAGACTGG	0.413		NA											23	17					0	0	0	0
GPR141	353345	broad.mit.edu	37	7	37780320	37780320	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:37780320A>G	uc003tfm.1	+	1	325	c.325A>G	c.(325-327)ATC>GTC	p.I109V	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	109	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						CTATGTGGTGATCCTGGTCAC	0.483		NA											17	58					0	0	0	0
MAGI2	9863	broad.mit.edu	37	7	78636417	78636417	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:78636417C>T	uc003ugx.2	-	2	661	c.407G>A	c.(406-408)CGC>CAC	p.R136H	MAGI2_uc003ugy.2_Missense_Mutation_p.R136H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	136	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGCACCGTGCGGAGGTAGAG	0.373		NA											63	41					0	0	0	0
CCDC132	55610	broad.mit.edu	37	7	92979233	92979234	+	Missense_Mutation	DNP	TA	TA	GT			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:92979233_92979234TA>GT	uc003umo.2	+	25	2479_2480	c.2351_2352TA>GT	c.(2350-2352)GTA>GGT	p.V784G	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.V754G|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.V504G	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	784											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TACTGGATTGTAGCTGGTAAAG	0.342		NA											16	88					0	0	0	0
ASB4	51666	broad.mit.edu	37	7	95157520	95157520	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:95157520G>C	uc011kij.1	+	3	883	c.883G>C	c.(883-885)GTC>CTC	p.V295L	ASB4_uc003unx.2_Missense_Mutation_p.V295L	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	295					intracellular signal transduction					central_nervous_system(1)	1	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CGTGCTGAAGGTCACCTCCGT	0.572		NA									OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	51					0	0	0	0
TMEM130	222865	broad.mit.edu	37	7	98446238	98446238	+	Silent	SNP	G	G	T	rs142570247		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:98446238G>T	uc003upo.2	-	7	1276	c.1087C>A	c.(1087-1089)CGG>AGG	p.R363R	TMEM130_uc011kiq.1_Silent_p.R344R|TMEM130_uc011kir.1_Silent_p.R363R|TMEM130_uc003upn.2_Silent_p.R261R	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	363	Cytoplasmic (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGCATTCCGCAGGGTCATG	0.517		NA											55	29					8.89e-47	1.09e-46	1	0
CYP3A5	1577	broad.mit.edu	37	7	99258197	99258197	+	Silent	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:99258197A>G	uc003urq.2	-	10	1038	c.951T>C	c.(949-951)ACT>ACC	p.T317T	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Silent_p.T137T|CYP3A5_uc003urr.2_Silent_p.T204T|CYP3A5_uc011kiy.1_Silent_p.T307T|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000777	NP_000768	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A,	317					alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)	GTTCATATAAAGTGAAGGAAA	0.473		NA											17	105					0	0	0	0
GIGYF1	64599	broad.mit.edu	37	7	100285665	100285665	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:100285665T>G	uc003uwg.1	-	2	1113	c.104A>C	c.(103-105)AAG>ACG	p.K35T		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	35										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTCAGCCAGCTTGTATTTGGG	0.642		NA											26	95					0	0	0	0
PIK3CG	5294	broad.mit.edu	37	7	106523581	106523581	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:106523581C>T	uc003vdv.3	+	8	2818	c.2733C>T	c.(2731-2733)CTC>CTT	p.L911L	PIK3CG_uc003vdu.2_Silent_p.L911L|PIK3CG_uc003vdw.2_Silent_p.L911L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	911	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						ATCACTGGCTCAAAGAAAAAT	0.428		NA											5	153					0	0	0	0
THAP5	168451	broad.mit.edu	37	7	108205290	108205290	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:108205290G>C	uc003vfm.2	-	3	687	c.533C>G	c.(532-534)TCT>TGT	p.S178C	THAP5_uc003vfl.2_Missense_Mutation_p.S136C	NM_001130475	NP_001123947	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5 isoform 1	178					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding				0						TTCCAAGGTAGATTCTGGTTT	0.348		NA											6	24					0	0	0	0
SLC13A1	6561	broad.mit.edu	37	7	122808429	122808429	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:122808429T>A	uc003vkm.2	-	6	684	c.659A>T	c.(658-660)AAG>ATG	p.K220M	SLC13A1_uc010lks.2_Translation_Start_Site	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	220						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	TTTATGTACCTTTTCCAACTC	0.254		NA											11	9					0	0	0	0
MGAM	8972	broad.mit.edu	37	7	141734603	141734603	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:141734603C>A	uc003vwy.2	+	16	1975	c.1921C>A	c.(1921-1923)CCT>ACT	p.P641T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	641	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGGTCCATCCCTGGCGTGCT	0.507		NA											23	24					3.29e-13	3.84e-13	1	0
UBXN2B	137886	broad.mit.edu	37	8	59352288	59352288	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:59352288G>A	uc003xtl.2	+	6	752	c.630G>A	c.(628-630)TTG>TTA	p.L210L		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	210						cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				ovary(2)	2						AACCTAGATTGAGGTTCAAGG	0.378		NA											6	65					0	0	0	0
CSPP1	79848	broad.mit.edu	37	8	68076024	68076024	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:68076024C>T	uc003xxi.2	+	23	2822	c.2791C>T	c.(2791-2793)CGT>TGT	p.R931C	CSPP1_uc003xxj.2_Missense_Mutation_p.R896C|CSPP1_uc003xxk.2_Missense_Mutation_p.R551C|CSPP1_uc010lyw.2_5'Flank	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	931	Potential.					centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAATCAGCTCCGTGCAGAAGG	0.338		NA											11	27					0	0	0	0
GDAP1	54332	broad.mit.edu	37	8	75276509	75276509	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:75276509G>A	uc003yah.2	+	6	1063	c.984G>A	c.(982-984)TTG>TTA	p.L328L	GDAP1_uc011lfj.1_Silent_p.L213L|GDAP1_uc003yai.2_Silent_p.L260L	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	ganglioside-induced differentiation-associated	328						cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TGGTTGGTTTGCTTGCAGGAG	0.433		NA											21	46					0	0	0	0
ZNF572	137209	broad.mit.edu	37	8	125990080	125990080	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:125990080G>A	uc003yrr.2	+	3	1725	c.1570G>A	c.(1570-1572)GTC>ATC	p.V524I		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTCATTTTCCGTCTCAAATTC	0.428		NA								HNSCC(60;0.17)			39	49					0	0	0	0
TSTA3	7264	broad.mit.edu	37	8	144697068	144697068	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:144697068C>A	uc003yza.2	-	4	315	c.279G>T	c.(277-279)ATG>ATT	p.M93I	TSTA3_uc003yzb.2_Missense_Mutation_p.M93I|TSTA3_uc011lko.1_Missense_Mutation_p.M93I	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	93					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(1)	1	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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CGTTGTCGTTCATGTGCACGT	0.607		NA											21	62					5.45e-15	6.43e-15	1	0
ZNF707	286075	broad.mit.edu	37	8	144776666	144776666	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:144776666G>A	uc003yze.3	+	7	1397	c.1082G>A	c.(1081-1083)CGG>CAG	p.R361Q	ZNF707_uc010mfh.2_Missense_Mutation_p.R361Q|ZNF707_uc010mfi.2_Missense_Mutation_p.R361Q|ZNF707_uc003yzf.3_Missense_Mutation_p.R361Q|ZNF707_uc003yzh.3_Missense_Mutation_p.R288Q|ZNF707_uc011lkq.1_RNA|BREA2_uc010mfj.1_5'Flank	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	361	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	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;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCTTCACGCGGCATCAGAGG	0.647		NA											25	16					0	0	0	0
HAUS6	54801	broad.mit.edu	37	9	19063008	19063008	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:19063008C>G	uc003znk.2	-	14	1880	c.1627G>C	c.(1627-1629)GAG>CAG	p.E543Q	HAUS6_uc011lmz.1_Missense_Mutation_p.E263Q|HAUS6_uc003znl.1_Missense_Mutation_p.E407Q|HAUS6_uc003znm.1_Missense_Mutation_p.E298Q	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	543					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.E543K(1)		ovary(2)	2						TTTCTCACCTCTTCTACCAGA	0.264		NA											43	138					0	0	0	0
HAUS6	54801	broad.mit.edu	37	9	19063029	19063029	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:19063029C>G	uc003znk.2	-	14	1859	c.1606G>C	c.(1606-1608)GAG>CAG	p.E536Q	HAUS6_uc011lmz.1_Missense_Mutation_p.E256Q|HAUS6_uc003znl.1_Missense_Mutation_p.E400Q|HAUS6_uc003znm.1_Missense_Mutation_p.E291Q	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	536					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						TGATCTTGCTCTTTTTGAAAT	0.299		NA											57	159					0	0	0	0
HAUS6	54801	broad.mit.edu	37	9	19063104	19063104	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:19063104C>T	uc003znk.2	-	14	1784	c.1531G>A	c.(1531-1533)GAT>AAT	p.D511N	HAUS6_uc011lmz.1_Missense_Mutation_p.D231N|HAUS6_uc003znl.1_Missense_Mutation_p.D375N|HAUS6_uc003znm.1_Missense_Mutation_p.D266N	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	511					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						TTTGCAACATCTGATAATGGA	0.368		NA											60	114					0	0	0	0
UBAP2	55833	broad.mit.edu	37	9	33943473	33943473	+	Missense_Mutation	SNP	G	G	T	rs147087482		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:33943473G>T	uc003ztq.1	-	15	1773	c.1660C>A	c.(1660-1662)CCA>ACA	p.P554T	UBAP2_uc011loc.1_Missense_Mutation_p.P463T|UBAP2_uc011lod.1_Missense_Mutation_p.P287T|UBAP2_uc011loe.1_Missense_Mutation_p.P309T|UBAP2_uc011lof.1_Missense_Mutation_p.P479T|UBAP2_uc011log.1_Missense_Mutation_p.P500T|UBAP2_uc003ztr.2_Missense_Mutation_p.P426T|UBAP2_uc003zts.2_Missense_Mutation_p.P187T	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	554										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCACTGCTTGGAGCTGATCCA	0.408		NA											17	67					3.71e-20	4.43e-20	1	0
PAX5	5079	broad.mit.edu	37	9	37020768	37020768	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:37020768A>C	uc003zzo.1	-	2	525	c.77T>G	c.(76-78)GTT>GGT	p.V26G	PAX5_uc011lpw.1_Missense_Mutation_p.V26G|PAX5_uc011lpx.1_Missense_Mutation_p.V26G|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.V26G|PAX5_uc011lpz.1_Missense_Mutation_p.V26G|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.V26G|PAX5_uc010mlp.1_Missense_Mutation_p.V26G|PAX5_uc011lqc.1_Missense_Mutation_p.V26G|PAX5_uc010mlr.1_Missense_Mutation_p.V26G|PAX5_uc011lqd.1_Missense_Mutation_p.V25G|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron	NM_016734	NP_057953	Q02548	PAX5_HUMAN	paired box 5	26	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(31)|p.V26G(3)|p.V26fs*49(1)	PAX5/JAK2(18)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		ATTCACAAAAACCCCCCCAAG	0.527		NA	T|Mis|D|F|S	IGH@|ETV6|PML|FOXP1|ZNF521|ELN	NHL|ALL|B-ALL								9	73					0	0	0	0
TRPM3	80036	broad.mit.edu	37	9	73164503	73164503	+	Missense_Mutation	SNP	C	C	A	rs139956868	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:73164503C>A	uc004aid.2	-	24	3870	c.3626G>T	c.(3625-3627)CGG>CTG	p.R1209L	TRPM3_uc004ahu.2_Missense_Mutation_p.R1051L|TRPM3_uc004ahv.2_Missense_Mutation_p.R1011L|TRPM3_uc004ahw.2_Missense_Mutation_p.R1081L|TRPM3_uc004ahx.2_Missense_Mutation_p.R1068L|TRPM3_uc004ahy.2_Missense_Mutation_p.R1071L|TRPM3_uc004ahz.2_Missense_Mutation_p.R1058L|TRPM3_uc004aia.2_Missense_Mutation_p.R1056L|TRPM3_uc004aib.2_Missense_Mutation_p.R1046L|TRPM3_uc004aic.2_Missense_Mutation_p.R1209L	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1234	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TGAGTTGAACCGATCATCCTT	0.423		NA											30	27					2.61e-14	3.07e-14	1	0
OR1N2	138882	broad.mit.edu	37	9	125316085	125316085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:125316085G>A	uc011lyx.1	+	1	637	c.637G>A	c.(637-639)GAG>AAG	p.E213K		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	213	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4						CCATGTAAACGAGCTGATGAT	0.517		NA											92	61					0	0	0	0
PDCL	5082	broad.mit.edu	37	9	125585430	125585430	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:125585430C>G	uc004bmz.1	-	3	315	c.219G>C	c.(217-219)GAG>GAC	p.E73D	PDCL_uc004bna.2_Missense_Mutation_p.E73D	NM_005388	NP_005379	Q13371	PHLP_HUMAN	phosducin-like	73					signal transduction|visual perception						0						TCTGCTCTGTCTCCAACTGCT	0.537		NA											29	124					0	0	0	0
GAPVD1	26130	broad.mit.edu	37	9	128092450	128092450	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:128092450A>G	uc010mwx.2	+	13	2452	c.2126A>G	c.(2125-2127)GAG>GGG	p.E709G	GAPVD1_uc011lzs.1_Missense_Mutation_p.E709G|GAPVD1_uc004bpp.2_Missense_Mutation_p.E709G|GAPVD1_uc004bpq.2_Missense_Mutation_p.E709G|GAPVD1_uc004bpr.2_Missense_Mutation_p.E688G|GAPVD1_uc004bps.2_Missense_Mutation_p.E709G|GAPVD1_uc010mwy.1_Missense_Mutation_p.E568G	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	709					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						ACCATATCAGAGACAACAAGT	0.433		NA											32	98					0	0	0	0
KIAA0649	9858	broad.mit.edu	37	9	138376561	138376561	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:138376561G>A	uc004cfr.1	+	4	754	c.205G>A	c.(205-207)GCA>ACA	p.A69T		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	69						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		TGAGCGCGCCGCACAGAGGGG	0.706		NA											50	48					0	0	0	0
CCNB3	85417	broad.mit.edu	37	X	50051787	50051787	+	Missense_Mutation	SNP	T	T	A	rs147712690	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:50051787T>A	uc004dox.3	+	6	916	c.618T>A	c.(616-618)TTT>TTA	p.F206L	CCNB3_uc004doy.2_Missense_Mutation_p.F206L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	206					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					ATGATGCGTTTGTTATAGAGC	0.413		NA											36	4					0	0	0	0
NXF5	55998	broad.mit.edu	37	X	101092763	101092763	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:101092763T>A	uc011mrk.1	-	14	1270	c.910A>T	c.(910-912)AAA>TAA	p.K304*	NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	304	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1						CAGGGGTCTTTGAGAATTTTT	0.507		NA											94	23					0	0	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139651	101139651	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:101139651A>T	uc004eim.2	-	2	3733	c.235T>A	c.(235-237)TTG>ATG	p.L79M	ZMAT1_uc011mrl.1_Missense_Mutation_p.L250M|ZMAT1_uc004ein.2_Missense_Mutation_p.L79M|ZMAT1_uc011mrm.1_Missense_Mutation_p.L79M	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	79						nucleus	zinc ion binding			ovary(1)	1						CGGGTTTCCAAAGAACTCTCT	0.443		NA											39	53					0	0	0	0
COL4A5	1287	broad.mit.edu	37	X	107865911	107865911	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:107865911G>A	uc004enz.1	+	33	2975	c.2773G>A	c.(2773-2775)GAT>AAT	p.D925N	COL4A5_uc011mso.1_Missense_Mutation_p.D925N|COL4A5_uc004eob.1_Missense_Mutation_p.D533N	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	925	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						TTTAGGTGATGATGGCTTGCA	0.413		NA							Alport_syndrome_with_Diffuse_Leiomyomatosis				19	40					0	0	0	0
MTCP1	4515	broad.mit.edu	37	X	154294265	154294265	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:154294265C>T	uc004fmz.2	-	2	647	c.21G>A	c.(19-21)GGG>GGA	p.G7G	MTCP1NB_uc004fmy.2_Intron	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	7					cell proliferation					lung(1)	1	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGGTGGAGCCCCCACATCCT	0.572		NA	T	TRA@	T cell prolymphocytic leukemia								11	16					0	0	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202920154	202920155	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:202920154_202920155insG	uc001gyq.3	-	2	311_312	c.44_45insC	c.(43-45)GCTfs	p.A15fs	ADIPOR1_uc010pqd.1_5'Flank|ADIPOR1_uc001gyr.3_5'UTR|ADIPOR1_uc001gys.3_Frame_Shift_Ins_p.A15fs	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	adiponectin receptor 1	15	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity				0			BRCA - Breast invasive adenocarcinoma(75;0.141)			TACTGGCAGGAGCCCCATTCCC	0.559		NA											10	121	---	---	---	---	NA	NA	NA	NA
ARAP1	116985	broad.mit.edu	37	11	72425238	72425238	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:72425238delG	uc001osu.2	-	4	827	c.638delC	c.(637-639)CCGfs	p.P213fs	ARAP1_uc001osv.2_Frame_Shift_Del_p.P213fs|ARAP1_uc001osr.2_5'Flank|ARAP1_uc001oss.2_5'UTR|ARAP1_uc009yth.2_5'UTR|ARAP1_uc010rre.1_5'UTR	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	213					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						AGGTATCTCCGGGGGGCAGGG	0.652		NA											2	4	---	---	---	---	NA	NA	NA	NA
ABCC9	10060	broad.mit.edu	37	12	22061049	22061054	+	In_Frame_Del	DEL	TAAAGT	TAAAGT	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:22061049_22061054delTAAAGT	uc001rfi.1	-	9	1432_1437	c.1412_1417delACTTTA	c.(1411-1419)TACTTTATT>TTT	p.471_473YFI>F	ABCC9_uc001rfh.2_In_Frame_Del_p.471_473YFI>F|ABCC9_uc001rfj.1_In_Frame_Del_p.471_473YFI>F	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	471_473	ABC transmembrane type-1 1.|Helical; Name=9; (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTGTAGCAATAAAGTACTGAATTGG	0.364		NA											12	26	---	---	---	---	NA	NA	NA	NA
MLL2	8085	broad.mit.edu	37	12	49447085	49447086	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:49447085_49447086insAC	uc001rta.3	-	7	858_859	c.858_859insGT	c.(856-861)TCTAAGfs	p.S286fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	286_287	PHD-type 2.|RING-type 2; degenerate.|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			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ACCAACATCTTAGAGTCATTCC	0.455		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			46	90	---	---	---	---	NA	NA	NA	NA
ISLR2	57611	broad.mit.edu	37	15	74425155	74425155	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:74425155delC	uc002axd.2	+	4	829	c.60delC	c.(58-60)TGCfs	p.C20fs	ISLR2_uc002axe.2_Frame_Shift_Del_p.C20fs|ISLR2_uc010bjg.2_Frame_Shift_Del_p.C20fs|ISLR2_uc010bjf.2_Frame_Shift_Del_p.C20fs	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	20	Extracellular (Potential).|LRRNT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CCGGATCATGCCCGGAGCCGT	0.617		NA											18	49	---	---	---	---	NA	NA	NA	NA
SP100	6672	broad.mit.edu	37	2	231379989	231379990	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:231379989_231379990insA	uc002vqt.2	+	25	2415_2416	c.2274_2275insA	c.(2272-2277)GAGAAAfs	p.E758fs	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	758_759	Poly-Lys.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTAAAGGGGAGAAAAAAAAGAA	0.421		NA											19	26	---	---	---	---	NA	NA	NA	NA
PLSCR1	5359	broad.mit.edu	37	3	146246596	146246597	+	Frame_Shift_Ins	INS	-	-	T	rs138630543	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:146246596_146246597insT	uc003evx.3	-	4	504_505	c.116_117insA	c.(115-117)TACfs	p.Y39fs	PLSCR1_uc003evy.3_Frame_Shift_Ins_p.Y32fs|PLSCR1_uc011bnn.1_Intron|PLSCR1_uc003evz.3_Intron|PLSCR1_uc003ewa.2_Frame_Shift_Ins_p.Y39fs	NM_021105	NP_066928	O15162	PLS1_HUMAN	phospholipid scramblase 1	39	Cytoplasmic.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			ovary(2)	2						GGGGCCCAGGGTAGCCACTATA	0.5		NA											11	65	---	---	---	---	NA	NA	NA	NA
ZNF775	285971	broad.mit.edu	37	7	150095175	150095176	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:150095175_150095176delGC	uc003whf.1	+	3	1731_1732	c.1606_1607delGC	c.(1606-1608)GCGfs	p.A536fs	LOC728743_uc003whg.2_5'Flank	NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	zinc finger protein 775	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGGAGGAGGCGCGCTAGTGG	0.693		NA											7	8	---	---	---	---	NA	NA	NA	NA
