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
KAZ	23254	broad.mit.edu	37	1	15287295	15287295	+	Silent	SNP	C	C	T	rs150589352	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:15287295C>T	uc001avm.3	+	2	623	c.342C>T	c.(340-342)GTC>GTT	p.V114V	KAZ_uc009vog.1_Silent_p.V114V|KAZ_uc010obj.1_Silent_p.V114V|KAZ_uc001avo.2_Silent_p.V108V|KAZ_uc001avp.2_Silent_p.V20V|KAZ_uc001avq.2_Silent_p.V20V|KAZ_uc001avr.2_Silent_p.V17V	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	114	Potential.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						CCTCTGAGGTCCTCTCGGCCA	0.612		NA											7	10					0	0	0	0
EIF2C1	26523	broad.mit.edu	37	1	36379463	36379463	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:36379463G>A	uc001bzl.2	+	13	1816	c.1603G>A	c.(1603-1605)GAT>AAT	p.D535N	EIF2C1_uc001bzk.2_Missense_Mutation_p.D460N|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	535	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACGTGTCGGAGATACACTCTT	0.363		NA											11	72					0	0	0	0
MRPS15	64960	broad.mit.edu	37	1	36921787	36921787	+	Splice_Site	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:36921787C>G	uc001cas.2	-	7	800	c.636_splice	c.e7+1	p.R212_splice		NM_031280	NP_112570	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15 precursor						translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGACTCGTACCCGAATGCAC	0.552		NA											9	48					0	0	0	0
GRIK3	2899	broad.mit.edu	37	1	37271712	37271712	+	Silent	SNP	C	C	T	rs114469448	by1000genomes	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:37271712C>T	uc001caz.2	-	14	2442	c.2307G>A	c.(2305-2307)ACG>ACA	p.T769T	GRIK3_uc001cba.1_Silent_p.T769T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	769	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CACCCATGGGCGTGCCGATGC	0.647		NA											12	35					0	0	0	0
HPDL	84842	broad.mit.edu	37	1	45793381	45793381	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:45793381C>T	uc001cne.2	+	1	837	c.561C>T	c.(559-561)TGC>TGT	p.C187C		NM_032756	NP_116145	Q96IR7	HPDL_HUMAN	glyoxalase domain containing 1	187					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	Acute lymphoblastic leukemia(166;0.155)					TGGGCTTTTGCCACTTGCCGC	0.672		NA											3	35					0	0	0	0
NASP	4678	broad.mit.edu	37	1	46073825	46073825	+	Silent	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:46073825C>G	uc001coi.1	+	6	1344	c.1242C>G	c.(1240-1242)GTC>GTG	p.V414V	NASP_uc010olq.1_Silent_p.V377V|NASP_uc001coh.1_Silent_p.V416V|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Silent_p.V350V|NASP_uc001cok.1_Silent_p.V297V	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	414	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGGAGAAGGTCAGGGCAAAGC	0.493		NA											11	46					0	0	0	0
NRD1	4898	broad.mit.edu	37	1	52287187	52287187	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:52287187G>C	uc001ctc.3	-	10	1726	c.1404C>G	c.(1402-1404)TTC>TTG	p.F468L	NRD1_uc009vzb.2_Missense_Mutation_p.F163L|NRD1_uc001ctd.3_Missense_Mutation_p.F400L|NRD1_uc001cte.2_Missense_Mutation_p.F336L|NRD1_uc001ctf.2_Missense_Mutation_p.F400L|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.F268L	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	399					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						GTATCTGAGAGAAGATTTCAG	0.254		NA											4	33					0	0	0	0
CACHD1	57685	broad.mit.edu	37	1	64936610	64936610	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:64936610G>A	uc001dbo.1	+	1	135	c.30G>A	c.(28-30)GGG>GGA	p.G10G		NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	61	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						AGGAGCTGGGGGTCGTCACCA	0.672		NA											10	10					0	0	0	0
AMY2B	280	broad.mit.edu	37	1	104115729	104115729	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:104115729T>A	uc001duq.2	+	5	976	c.360T>A	c.(358-360)AAT>AAA	p.N120K	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.N120K|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	120					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGTCTGGTAATGCTGTGAGTG	0.408		NA											139	141					0	0	0	0
BCL9	607	broad.mit.edu	37	1	147091317	147091317	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:147091317C>T	uc001epq.2	+	8	2096	c.1356C>T	c.(1354-1356)TCC>TCT	p.S452S	BCL9_uc010ozr.1_Silent_p.S378S	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	452	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CTATGAACTCCCAGTCTGGGA	0.532		NA	T	IGH@|IGL@	B-ALL								12	55					0	0	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149785127	149785127	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:149785127T>A	uc010pbl.1	-	1	110	c.110A>T	c.(109-111)AAG>ATG	p.K37M	HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN	histone cluster 2, H3d	37					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding				0						GTGCGGCTTCTTCACCCCGCC	0.697		NA											5	23					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152276145	152276145	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:152276145G>A	uc001ezu.1	-	3	11253	c.11217C>T	c.(11215-11217)CAC>CAT	p.H3739H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3739	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCTGCTCGTGGCGGGATC	0.602		NA							Ichthyosis				16	363					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152283117	152283117	+	Silent	SNP	T	T	C	rs150981235		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:152283117T>C	uc001ezu.1	-	3	4281	c.4245A>G	c.(4243-4245)CAA>CAG	p.Q1415Q	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1415	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCCCAGCTTGTCCGTGGG	0.562		NA							Ichthyosis				10	247					0	0	0	0
IQGAP3	128239	broad.mit.edu	37	1	156504953	156504953	+	Splice_Site	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:156504953G>T	uc001fpf.2	-	28	3582	c.3507_splice	c.e28+1	p.K1169_splice		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3						small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACAACACTTGCCTTATAGAC	0.507		NA											27	108					5.1e-08	5.71e-08	1	0
FCGR2A	2212	broad.mit.edu	37	1	161487824	161487824	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:161487824C>T	uc001gan.2	+	7	893	c.840C>T	c.(838-840)GAC>GAT	p.D280D	FCGR2A_uc001gam.2_Silent_p.D279D|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	280	Cytoplasmic (Potential).					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)	CCAACAATGACTATGAAACAG	0.274		NA											28	15					0	0	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953788	161953788	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:161953788C>A	uc001gbu.2	-	8	2354	c.1930G>T	c.(1930-1932)GAG>TAG	p.E644*	OLFML2B_uc001gbt.2_Nonsense_Mutation_p.E127*|OLFML2B_uc010pkq.1_Nonsense_Mutation_p.E645*	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	644	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ACAATGACCTCCTGGCTGAAG	0.607		NA											38	8					2.36e-33	2.76e-33	1	0
C1orf114	57821	broad.mit.edu	37	1	169364286	169364286	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:169364286C>T	uc001gga.1	-	6	1697	c.1529G>A	c.(1528-1530)TGA>TAA	p.*510*	BLZF1_uc001gfy.2_Intron|C1orf114_uc001gfz.1_Silent_p.*509*|C1orf114_uc009wvq.1_Silent_p.*509*	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	510											0	all_hematologic(923;0.208)					TAGAAACTTTCAGTTATAATG	0.348		NA											15	25					0	0	0	0
C1orf129	80133	broad.mit.edu	37	1	170967299	170967299	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:170967299C>G	uc001ghg.2	+	15	1610	c.1480C>G	c.(1480-1482)CTC>GTC	p.L494V	C1orf129_uc009wvy.2_Missense_Mutation_p.L301V|C1orf129_uc010plz.1_Missense_Mutation_p.L494V	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	494							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTACAGAACTCTCAGTGAATA	0.398		NA											37	32					0	0	0	0
DNM3	26052	broad.mit.edu	37	1	172376929	172376929	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:172376929C>A	uc001gie.2	+	21	2716	c.2540C>A	c.(2539-2541)TCA>TAA	p.S847*	DNM3_uc001gif.2_Nonsense_Mutation_p.S843*|DNM3_uc001gih.1_Intron|PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	853					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						CCACCCCCATCACCAACTCGT	0.433		NA											66	38					2.43e-22	2.83e-22	1	0
SERPINC1	462	broad.mit.edu	37	1	173878987	173878987	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:173878987G>T	uc001gjt.2	-	5	975	c.856C>A	c.(856-858)CAG>AAG	p.Q286K		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	286			Missing (in AT3D; type-I).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TTGCCTTCCTGGTACATCATA	0.522		NA											13	65					2.27e-07	2.53e-07	1	0
PPFIA4	8497	broad.mit.edu	37	1	203024771	203024771	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:203024771G>A	uc001gyz.2	+	3	1116	c.523G>A	c.(523-525)GAC>AAC	p.D175N	PPFIA4_uc009xaj.2_Missense_Mutation_p.D806N|PPFIA4_uc010pqf.1_Missense_Mutation_p.D388N|PPFIA4_uc001gza.2_Missense_Mutation_p.D175N|PPFIA4_uc001gzb.1_5'Flank	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	175					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						TGCTGCCCAGGACCTGGACCG	0.657		NA											9	43					0	0	0	0
REN	5972	broad.mit.edu	37	1	204124947	204124947	+	Splice_Site	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:204124947C>A	uc001haq.2	-	9	1103	c.1059_splice	c.e9+1	p.Q353_splice		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein						angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TCGAACCTCACCTGAAATACA	0.522		NA											12	5					7.04e-09	7.97e-09	1	0
CR2	1380	broad.mit.edu	37	1	207639997	207639997	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:207639997G>A	uc001hfw.2	+	2	279	c.185G>A	c.(184-186)AGT>AAT	p.S62N	CR2_uc001hfv.2_Missense_Mutation_p.S62N|CR2_uc009xch.2_Missense_Mutation_p.S62N	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	62	Sushi 1.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GGAGAAAAAAGTCTATTATGC	0.398		NA											24	91					0	0	0	0
URB2	9816	broad.mit.edu	37	1	229770966	229770966	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:229770966C>T	uc001hts.1	+	4	742	c.606C>T	c.(604-606)CTC>CTT	p.L202L	URB2_uc009xfd.1_Silent_p.L202L	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	202						nucleolus				central_nervous_system(2)|ovary(1)	3						CTCACCTGCTCCAGCCGTGCC	0.607		NA											8	61					0	0	0	0
AHCTF1	25909	broad.mit.edu	37	1	247024567	247024567	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:247024567T>C	uc001ibu.1	-	28	3773	c.3766A>G	c.(3766-3768)ACT>GCT	p.T1256A	AHCTF1_uc001ibv.1_Missense_Mutation_p.T1265A|AHCTF1_uc009xgs.1_Missense_Mutation_p.T117A|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1256	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTAGGTGTAGTAAATACTTCT	0.363		NA											9	5					0	0	0	0
OR2T12	127064	broad.mit.edu	37	1	248458195	248458195	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:248458195G>T	uc010pzj.1	-	1	686	c.686C>A	c.(685-687)ACA>AAA	p.T229K		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCGGGCTTCTGTAGAGCGCAT	0.517		NA											16	60					2.35e-11	2.69e-11	1	0
PTF1A	256297	broad.mit.edu	37	10	23481462	23481462	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:23481462G>C	uc001irp.2	+	1	3	c.3G>C	c.(1-3)ATG>ATC	p.M1I		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	1					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				pancreas(1)|skin(1)	2						CGGCGAGCATGGACGCGGTGT	0.657		NA											8	35					0	0	0	0
ZEB1	6935	broad.mit.edu	37	10	31803553	31803553	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:31803553G>T	uc001ivs.3	+	6	770	c.707G>T	c.(706-708)TGT>TTT	p.C236F	ZEB1_uc001ivr.3_Missense_Mutation_p.C18F|ZEB1_uc010qee.1_Missense_Mutation_p.C18F|ZEB1_uc010qef.1_Missense_Mutation_p.C18F|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Missense_Mutation_p.C162F|ZEB1_uc010qeg.1_Missense_Mutation_p.C95F|ZEB1_uc009xlk.1_Missense_Mutation_p.C18F|ZEB1_uc001ivt.3_Missense_Mutation_p.C18F|ZEB1_uc001ivu.3_Missense_Mutation_p.C237F|ZEB1_uc001ivv.3_Missense_Mutation_p.C216F|ZEB1_uc010qeh.1_Missense_Mutation_p.C169F|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Missense_Mutation_p.C219F|ZEB1_uc009xlp.2_Missense_Mutation_p.C220F	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	236					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				CAGTCTGGGTGTAATCGTAAA	0.328		NA											7	41					2.01e-06	2.21e-06	1	0
KIAA0913	23053	broad.mit.edu	37	10	75552009	75552009	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:75552009G>A	uc009xrl.2	+	10	1744	c.1712G>A	c.(1711-1713)GGA>GAA	p.G571E	KIAA0913_uc001jve.2_Missense_Mutation_p.G571E|KIAA0913_uc001jvf.2_Missense_Mutation_p.G571E|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_5'UTR|KIAA0913_uc010qkr.1_5'UTR|KIAA0913_uc001jvj.2_5'UTR	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	571	Gly-rich.						zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GCTGAAGGGGGAGATAAAGCT	0.652		NA											3	35					0	0	0	0
IFIT2	3433	broad.mit.edu	37	10	91066959	91066959	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:91066959C>A	uc009xts.2	+	2	1421	c.1246C>A	c.(1246-1248)CAA>AAA	p.Q416K	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	416					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				AGACAAACTGCAAAAAATTGC	0.388		NA											23	76					9.58e-11	1.09e-10	1	0
CYP26A1	1592	broad.mit.edu	37	10	94835689	94835689	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:94835689A>G	uc001kil.2	+	5	1016	c.971A>G	c.(970-972)CAG>CGG	p.Q324R	CYP26A1_uc001kik.1_Missense_Mutation_p.Q255R|CYP26A1_uc001kim.1_Missense_Mutation_p.Q222R	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	324					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				CATGTTCTCCAGAAAGTGCGA	0.512		NA											21	18					0	0	0	0
ACSL5	51703	broad.mit.edu	37	10	114177625	114177625	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:114177625C>A	uc001kzs.2	+	14	1381	c.1240C>A	c.(1240-1242)CGT>AGT	p.R414S	ACSL5_uc001kzt.2_Missense_Mutation_p.R414S|ACSL5_uc001kzu.2_Missense_Mutation_p.R470S|ACSL5_uc009xxz.2_Missense_Mutation_p.R414S|ACSL5_uc010qrj.1_Missense_Mutation_p.R196S	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	414	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(2)|skin(1)	3		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CGGAAGGGTTCGTGTAATTGT	0.383		NA											31	25					3.87e-22	4.5e-22	1	0
DMBT1	1755	broad.mit.edu	37	10	124336113	124336113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr10:124336113C>A	uc001lgk.1	+	7	588	c.482C>A	c.(481-483)TCA>TAA	p.S161*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.S161*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.S161*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.S161*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.S161*|DMBT1_uc009yaa.1_Nonsense_Mutation_p.S13*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	161	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCCAGGGCTCAGGACCCATT	0.592		NA											35	92					2e-19	2.31e-19	1	0
PHRF1	57661	broad.mit.edu	37	11	607244	607244	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:607244G>A	uc001lqe.2	+	14	1919	c.1788G>A	c.(1786-1788)GCG>GCA	p.A596A	PHRF1_uc010qwc.1_Silent_p.A595A|PHRF1_uc010qwd.1_Silent_p.A594A|PHRF1_uc010qwe.1_Silent_p.A592A|PHRF1_uc009ybz.1_Silent_p.A386A|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	596							RNA polymerase binding|zinc ion binding				0						CCCGCACCGCGGGGGCGCCTG	0.692		NA											14	44					0	0	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606411	1606411	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:1606411G>A	uc001ltu.1	-	1	103	c.69C>T	c.(67-69)GGC>GGT	p.G23G	LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	23						keratin filament					0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGAGCCACAGCCCCCACAGC	0.677		NA											6	98					0	0	0	0
OR51M1	390059	broad.mit.edu	37	11	5410918	5410918	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:5410918T>C	uc010qzc.1	+	1	290	c.290T>C	c.(289-291)TTC>TCC	p.F97S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M,	97						integral to membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGGGATCTTCTGGTTTAAC	0.502		NA											33	82					0	0	0	0
CCKBR	887	broad.mit.edu	37	11	6292427	6292427	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:6292427G>A	uc001mcp.2	+	5	1191	c.998G>A	c.(997-999)CGA>CAA	p.R333Q	CCKBR_uc001mcq.2_Missense_Mutation_p.R261Q|CCKBR_uc001mcr.2_Missense_Mutation_p.R333Q|CCKBR_uc001mcs.2_Missense_Mutation_p.R402Q|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	333	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGCGTGGTGCGAATGTTGCTG	0.632		NA											6	37					0	0	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17122958	17122958	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:17122958G>A	uc001mmq.3	-	24	3941	c.3875C>T	c.(3874-3876)ACC>ATC	p.T1292I	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.T912I|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1292	PI3K/PI4K.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	CATATCAGAGGTCAGCACAAA	0.373		NA											7	32					0	0	0	0
NELL1	4745	broad.mit.edu	37	11	20907084	20907084	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:20907084A>G	uc001mqe.2	+	5	754	c.601A>G	c.(601-603)AAA>GAA	p.K201E	NELL1_uc001mqf.2_Missense_Mutation_p.K201E|NELL1_uc009yid.2_Missense_Mutation_p.K229E|NELL1_uc010rdo.1_Missense_Mutation_p.K144E|NELL1_uc010rdp.1_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	201	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						TGGCTTATTCAAAGTAAGCAC	0.393		NA											13	26					0	0	0	0
OR4C46	119749	broad.mit.edu	37	11	51515583	51515583	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:51515583G>A	uc010ric.1	+	1	302	c.302G>A	c.(301-303)GGA>GAA	p.G101E		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	101	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CAAGTCTTTGGAGAACATTTC	0.463		NA											21	69					0	0	0	0
OR5F1	338674	broad.mit.edu	37	11	55761812	55761812	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:55761812C>A	uc010riv.1	-	1	290	c.290G>T	c.(289-291)TGC>TTC	p.C97F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					CTGTAGGAAGCAGCCAGCAAA	0.473		NA											23	67					1.43e-11	1.64e-11	1	0
DAK	26007	broad.mit.edu	37	11	61110820	61110820	+	Missense_Mutation	SNP	G	G	A	rs142716350	byFrequency	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:61110820G>A	uc001nre.2	+	11	1129	c.872G>A	c.(871-873)CGC>CAC	p.R291H	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Missense_Mutation_p.R221H	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	291	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						GCAGAGGGCCGCGGGGTGAAG	0.562		NA											22	61					0	0	0	0
LTBP3	4054	broad.mit.edu	37	11	65308358	65308358	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:65308358G>A	uc001oej.2	-	21	3230	c.2961C>T	c.(2959-2961)GGC>GGT	p.G987G	LTBP3_uc001oef.2_5'UTR|LTBP3_uc001oeg.2_5'UTR|LTBP3_uc001oeh.2_Silent_p.G417G|LTBP3_uc010roi.1_Silent_p.G870G|LTBP3_uc001oei.2_Silent_p.G987G|LTBP3_uc010roj.1_Silent_p.G688G|LTBP3_uc010rok.1_Silent_p.G898G	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	987						extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						GGGCTGGGATGCCGTAGTTGA	0.706		NA									OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65350494	65350494	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:65350494C>T	uc001oeo.3	+	9	2616	c.2351C>T	c.(2350-2352)TCA>TTA	p.S784L	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	784	Glu-rich.									central_nervous_system(1)	1						TCTAGGGATTCAGGGGTCCCA	0.542		NA											8	27					0	0	0	0
KDM2A	22992	broad.mit.edu	37	11	66888812	66888812	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:66888812C>T	uc001ojw.2	+	2	889	c.25C>T	c.(25-27)CGT>TGT	p.R9C	KDM2A_uc001ojx.2_RNA	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						AGAAAGGATTCGTTACAGCCA	0.423		NA											8	23					0	0	0	0
ALDH3B1	221	broad.mit.edu	37	11	67789312	67789312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:67789312C>T	uc010rpy.1	+	9	1038	c.922C>T	c.(922-924)CAG>TAG	p.Q308*	ALDH3B1_uc001omz.2_Nonsense_Mutation_p.Q308*|ALDH3B1_uc001ona.2_Nonsense_Mutation_p.Q271*|ALDH3B1_uc001onb.2_RNA	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3B1 isoform a	308					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase				0					NADH(DB00157)	CATTGGGGGCCAGAGCGATGA	0.662		NA											13	37					0	0	0	0
PPFIA1	8500	broad.mit.edu	37	11	70171106	70171106	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:70171106C>G	uc001opo.2	+	4	718	c.520C>G	c.(520-522)CTG>GTG	p.L174V	PPFIA1_uc001opn.1_Missense_Mutation_p.L174V|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	174					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCACAAAGCTCTGGATGAAAA	0.473		NA											16	341					0	0	0	0
PPFIA1	8500	broad.mit.edu	37	11	70176374	70176374	+	Silent	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:70176374C>G	uc001opo.2	+	8	1224	c.1026C>G	c.(1024-1026)CTC>CTG	p.L342L	PPFIA1_uc001opn.1_Silent_p.L342L|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	342	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGCATGACCTCAATGATAAAC	0.383		NA											12	296					0	0	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832997	101832997	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:101832997G>A	uc001pgm.2	+	6	1501	c.1231G>A	c.(1231-1233)GAG>AAG	p.E411K	KIAA1377_uc001pgn.2_Missense_Mutation_p.E367K|KIAA1377_uc010run.1_Missense_Mutation_p.E212K|KIAA1377_uc009yxa.1_Missense_Mutation_p.E212K	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	411							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATTAGTTACTGAGAGCCCAAC	0.378		NA											8	174					0	0	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1889776	1889776	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:1889776C>T	uc001qjm.2	+	5	820	c.623C>T	c.(622-624)TCA>TTA	p.S208L	ADIPOR2_uc001qjn.2_Missense_Mutation_p.S208L	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	adiponectin receptor 2	208	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity				0	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			TACTGCCACTCAGAGGGGGTC	0.458		NA											28	176					0	0	0	0
VWF	7450	broad.mit.edu	37	12	6128892	6128892	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:6128892T>G	uc001qnn.1	-	28	3942	c.3692A>C	c.(3691-3693)AAC>ACC	p.N1231T	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1231					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	ACAGGTGAGGTTGACAACATC	0.542		NA											4	19					0	0	0	0
CD163	9332	broad.mit.edu	37	12	7649555	7649555	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:7649555C>G	uc001qsz.3	-	5	1081	c.953G>C	c.(952-954)CGA>CCA	p.R318P	CD163_uc001qta.3_Missense_Mutation_p.R318P|CD163_uc009zfw.2_Missense_Mutation_p.R318P	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	318	SRCR 3.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						GGCGTTAACTCGACCAATGGC	0.517		NA											35	34					0	0	0	0
C3AR1	719	broad.mit.edu	37	12	8211882	8211882	+	Silent	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:8211882A>T	uc001qtv.1	-	2	992	c.900T>A	c.(898-900)GCT>GCA	p.A300A		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	300	Extracellular (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)		AATTGCTAGAAGCGCTAGGGA	0.448		NA											34	64					0	0	0	0
ABCC9	10060	broad.mit.edu	37	12	21998701	21998702	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:21998701_21998702GC>TT	uc001rfi.1	-	24	2951_2952	c.2931_2932GC>AA	c.(2929-2934)ATGCCA>ATAACA	p.977_978MP>IT	ABCC9_uc001rfh.2_Missense_Mutation_p.977_978MP>IT|ABCC9_uc001rfj.1_Missense_Mutation_p.941_942MP>IT	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	977_978	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTTTTCCATGGCATTTTAGTCC	0.421		NA											9	46					0	0	0	0
TMTC1	83857	broad.mit.edu	37	12	29689237	29689237	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:29689237T>G	uc001rjb.2	-	11	1840	c.1366A>C	c.(1366-1368)AAG>CAG	p.K456Q	TMTC1_uc001riz.2_Missense_Mutation_p.K213Q|TMTC1_uc001rja.2_Missense_Mutation_p.K300Q|TMTC1_uc001rjc.1_Missense_Mutation_p.K518Q	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	564	TPR 3.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GCTTCTTCCTTTTTCTCCTGG	0.378		NA											38	52					0	0	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48143226	48143226	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:48143226C>T	uc009zkp.2	-	9	1302	c.862G>A	c.(862-864)GAC>AAC	p.D288N	RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Missense_Mutation_p.D288N|RAPGEF3_uc001rpz.3_Missense_Mutation_p.D330N|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Missense_Mutation_p.D342N|RAPGEF3_uc001rqb.3_Missense_Mutation_p.D330N	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	288					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			lung(2)|skin(1)|pancreas(1)	4	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGACAGTTGTCTTCTCGCAGG	0.582		NA											6	50					0	0	0	0
GLI1	2735	broad.mit.edu	37	12	57858517	57858517	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:57858517C>G	uc001snx.2	+	4	333	c.255C>G	c.(253-255)ATC>ATG	p.I85M	GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_Translation_Start_Site|GLI1_uc009zpr.1_RNA	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	85					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			CACTGTCCATCTCACCTCTGT	0.587		NA											12	33					0	0	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85500352	85500352	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:85500352G>T	uc001tac.2	+	15	3447	c.3336G>T	c.(3334-3336)TTG>TTT	p.L1112F	LRRIQ1_uc001tab.1_Missense_Mutation_p.L1112F	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1112										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TCCATGAATTGTCTCTTACTG	0.338		NA											8	49					0.000157383	0.000168048	1	0
UTP20	27340	broad.mit.edu	37	12	101685601	101685601	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:101685601A>G	uc001tia.1	+	9	1129	c.973A>G	c.(973-975)ACA>GCA	p.T325A		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	325					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						GTTGTTGGAAACATACCTTAT	0.383		NA											7	20					0	0	0	0
NUAK1	9891	broad.mit.edu	37	12	106461427	106461427	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:106461427G>A	uc001tlj.1	-	7	2519	c.1139C>T	c.(1138-1140)TCT>TTT	p.S380F		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	380							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						ATCCTGACCAGACTGAGCAAA	0.542		NA											26	65					0	0	0	0
SACS	26278	broad.mit.edu	37	13	23945292	23945292	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:23945292T>A	uc001uon.2	-	4	773	c.184A>T	c.(184-186)ATC>TTC	p.I62F	SACS_uc001uoo.2_Intron|SACS_uc001uoq.1_5'Flank	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	62	Ubiquitin-like.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCAATCTTGATCCAGTCAGAT	0.303		NA											9	21					0	0	0	0
NBEA	26960	broad.mit.edu	37	13	35517144	35517144	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:35517144C>G	uc001uvb.2	+	2	393	c.187C>G	c.(187-189)CCT>GCT	p.P63A		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	63						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GATGATTAACCCTTCGGTGCC	0.498		NA											9	16					0	0	0	0
ZC3H13	23091	broad.mit.edu	37	13	46563012	46563012	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:46563012G>C	uc010tfw.1	-	8	1171	c.1165C>G	c.(1165-1167)CCA>GCA	p.P389A	ZC3H13_uc001vas.1_Missense_Mutation_p.P389A|ZC3H13_uc001vat.1_Missense_Mutation_p.P389A	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	389	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CGATGTCTTGGAGGACTCTGC	0.493		NA											7	23					0	0	0	0
MYO16	23026	broad.mit.edu	37	13	109438041	109438041	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:109438041T>C	uc001vqt.1	+	5	626	c.500T>C	c.(499-501)GTA>GCA	p.V167A	MYO16_uc010agk.1_Missense_Mutation_p.V189A	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	167	ANK 4.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GATTATGCTGTAGAAGGGACA	0.343		NA											21	24					0	0	0	0
MCF2L	23263	broad.mit.edu	37	13	113748882	113748882	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr13:113748882C>G	uc001vsu.2	+	27	3201	c.3179C>G	c.(3178-3180)TCA>TGA	p.S1060*	MCF2L_uc001vsq.2_Nonsense_Mutation_p.S1060*|MCF2L_uc010tjr.1_Nonsense_Mutation_p.S1003*|MCF2L_uc001vsr.2_Nonsense_Mutation_p.S1007*|MCF2L_uc010tjs.1_Nonsense_Mutation_p.S1001*	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	1033					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGGGGCTGGTCAAGTGCAGAG	0.632		NA											7	16					0	0	0	0
ACIN1	22985	broad.mit.edu	37	14	23548865	23548865	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:23548865C>T	uc001wit.3	-	6	2181	c.1853G>A	c.(1852-1854)CGT>CAT	p.R618H	ACIN1_uc001wis.3_Missense_Mutation_p.R300H|ACIN1_uc010akg.2_Missense_Mutation_p.R618H|ACIN1_uc010tnj.1_Missense_Mutation_p.R578H	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	618	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGCATGAGTACGTGCCTGGGC	0.522		NA											25	107					0	0	0	0
LRRC16B	90668	broad.mit.edu	37	14	24531703	24531703	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:24531703C>G	uc001wlj.2	+	28	2652	c.2495C>G	c.(2494-2496)TCA>TGA	p.S832*	LRRC16B_uc001wlk.2_5'UTR	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	832										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		GTGAAGCTCTCAGTCGTCACC	0.572		NA											28	110					0	0	0	0
STXBP6	29091	broad.mit.edu	37	14	25288333	25288333	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:25288333C>G	uc001wpu.2	-	5	1234	c.519G>C	c.(517-519)TTG>TTC	p.L173F	STXBP6_uc001wpv.2_Missense_Mutation_p.L173F|STXBP6_uc001wpw.2_Missense_Mutation_p.L173F|STXBP6_uc001wpx.1_RNA|STXBP6_uc001wpt.2_Missense_Mutation_p.L71F	NM_014178	NP_054897	Q8NFX7	STXB6_HUMAN	amisyn	173	v-SNARE coiled-coil homology.				vesicle-mediated transport	cytoplasm|integral to membrane					0				GBM - Glioblastoma multiforme(265;0.0296)		CACGCTCATTCAAGGCCTGGC	0.562		NA											5	88					0	0	0	0
MUDENG	55745	broad.mit.edu	37	14	57749862	57749862	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:57749862C>T	uc001xcv.2	+	6	1634	c.1207C>T	c.(1207-1209)CTT>TTT	p.L403F	MUDENG_uc010tri.1_Missense_Mutation_p.L157F|MUDENG_uc010trj.1_Missense_Mutation_p.L300F	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	403	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						GGAAATTAGTCTTTCTGGAAC	0.318		NA											8	39					0	0	0	0
TRMT5	57570	broad.mit.edu	37	14	61444232	61444232	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:61444232C>A	uc001xff.3	-	3	883	c.792G>T	c.(790-792)AAG>AAT	p.K264N		NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	264						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TAAAATATACCTTTGTCATCA	0.249		NA											8	64					7.48e-07	8.29e-07	1	0
SYNE2	23224	broad.mit.edu	37	14	64595181	64595181	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:64595181G>T	uc001xgm.2	+	74	14159	c.13929G>T	c.(13927-13929)AAG>AAT	p.K4643N	SYNE2_uc001xgl.2_Missense_Mutation_p.K4643N|SYNE2_uc010apy.2_Missense_Mutation_p.K1028N|SYNE2_uc010apz.1_Missense_Mutation_p.K535N	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4643	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGAAATAAAGAGATTATATC	0.289		NA											7	49					0.000157383	0.000168048	1	0
SYNE2	23224	broad.mit.edu	37	14	64595183	64595183	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:64595183G>A	uc001xgm.2	+	74	14161	c.13931G>A	c.(13930-13932)AGA>AAA	p.R4644K	SYNE2_uc001xgl.2_Missense_Mutation_p.R4644K|SYNE2_uc010apy.2_Missense_Mutation_p.R1029K|SYNE2_uc010apz.1_Missense_Mutation_p.R536K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4644	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAATAAAGAGATTATATCAT	0.294		NA											7	47					0	0	0	0
SYNE2	23224	broad.mit.edu	37	14	64596835	64596835	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:64596835G>A	uc001xgm.2	+	76	14439	c.14209G>A	c.(14209-14211)GAG>AAG	p.E4737K	SYNE2_uc001xgl.2_Missense_Mutation_p.E4737K|SYNE2_uc010apy.2_Missense_Mutation_p.E1122K|SYNE2_uc010apz.1_Missense_Mutation_p.E629K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4737	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTCGTCACTGAGAGCCAGCA	0.468		NA											4	32					0	0	0	0
TTC7B	145567	broad.mit.edu	37	14	91142901	91142901	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr14:91142901A>G	uc001xyp.2	-	9	1240	c.1118T>C	c.(1117-1119)CTT>CCT	p.L373P	TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	373	TPR 3.						binding			ovary(2)	2		Melanoma(154;0.222)				TCTTCTTCCAAGAGCAATGGT	0.547		NA											11	68					0	0	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890759	23890759	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:23890759C>T	uc001ywj.3	-	1	417	c.322G>A	c.(322-324)GCT>ACT	p.A108T		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AATGATTTAGCGGAGCCCAGG	0.632		NA											4	7					0	0	0	0
RYR3	6263	broad.mit.edu	37	15	33927944	33927944	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:33927944G>A	uc001zhi.2	+	26	3375	c.3305G>A	c.(3304-3306)GGC>GAC	p.G1102D	RYR3_uc010bar.2_Missense_Mutation_p.G1102D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1102	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGCGAGTCGGCTGGGCGAGG	0.507		NA											7	14					0	0	0	0
PAK6	56924	broad.mit.edu	37	15	40568201	40568201	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:40568201A>T	uc010bbl.2	+	11	2392	c.1952A>T	c.(1951-1953)GAG>GTG	p.E651V	PAK6_uc010bbm.2_Missense_Mutation_p.E651V|PAK6_uc001zky.3_Missense_Mutation_p.E606V|PAK6_uc010bbn.2_Missense_Mutation_p.E651V|PAK6_uc001zlb.2_Missense_Mutation_p.E651V	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	651	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ACAGCCCAGGAGCTCCTAGAC	0.627		NA											17	57					0	0	0	0
UBR1	197131	broad.mit.edu	37	15	43346982	43346982	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:43346982T>A	uc001zqq.2	-	12	1463	c.1397A>T	c.(1396-1398)CAG>CTG	p.Q466L	UBR1_uc010udk.1_Missense_Mutation_p.Q466L	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	466					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CAATTTGTCCTGGCTATAACC	0.388		NA											29	49					0	0	0	0
DUOX1	53905	broad.mit.edu	37	15	45455880	45455880	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:45455880A>G	uc001zus.1	+	33	4745	c.4399A>G	c.(4399-4401)ATG>GTG	p.M1467V	DUOX1_uc001zut.1_Missense_Mutation_p.M1467V|DUOX1_uc010bee.1_Missense_Mutation_p.M847V	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1467	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGACCACTATGCTGGTATG	0.562		NA									OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	69					0	0	0	0
MYO5C	55930	broad.mit.edu	37	15	52531989	52531989	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:52531989C>A	uc010bff.2	-	21	2781	c.2644G>T	c.(2644-2646)GTG>TTG	p.V882L	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	882	IQ 5.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		ATATTAAGCACGAATCGTCGG	0.438		NA											13	60					2.27e-07	2.53e-07	1	0
CCPG1	9236	broad.mit.edu	37	15	55677908	55677908	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:55677908G>T	uc002acv.1	-	3	230	c.65C>A	c.(64-66)TCA>TAA	p.S22*	CCPG1_uc002acy.2_Nonsense_Mutation_p.S22*|DYX1C1_uc010ugh.1_RNA|CCPG1_uc002acw.1_5'UTR|CCPG1_uc002acx.2_Nonsense_Mutation_p.S22*|CCPG1_uc010bfk.1_Nonsense_Mutation_p.S22*|CCPG1_uc002acz.1_Nonsense_Mutation_p.S22*	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	22	Cytoplasmic (Potential).|Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		TTCTATATCTGACCCCTAAGG	0.403		NA											9	14					1.13e-05	1.23e-05	1	0
VPS13C	54832	broad.mit.edu	37	15	62254026	62254026	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:62254026T>C	uc002agz.2	-	35	3744	c.3670A>G	c.(3670-3672)AGG>GGG	p.R1224G	VPS13C_uc002aha.2_Missense_Mutation_p.R1181G|VPS13C_uc002ahb.1_Missense_Mutation_p.R1224G|VPS13C_uc002ahc.1_Missense_Mutation_p.R1181G	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	1224					protein localization					ovary(2)	2						GTGGCAGCCCTTTCTGCAGCC	0.438		NA											19	54					0	0	0	0
CILP	8483	broad.mit.edu	37	15	65490630	65490630	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:65490630C>G	uc002aon.2	-	9	2175	c.1994G>C	c.(1993-1995)AGA>ACA	p.R665T		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	665					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						GACCTCATCTCTGAAGTCCAC	0.512		NA											14	58					0	0	0	0
LRRC49	54839	broad.mit.edu	37	15	71197029	71197029	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:71197029G>C	uc002asw.2	+	5	682	c.435G>C	c.(433-435)CAG>CAC	p.Q145H	LRRC49_uc002asu.2_Missense_Mutation_p.Q135H|LRRC49_uc002asx.2_Missense_Mutation_p.Q101H|LRRC49_uc010ukf.1_Missense_Mutation_p.Q150H|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Missense_Mutation_p.Q117H	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	145	LRR 2.					cytoplasm|microtubule				ovary(1)	1						ATGATAACCAGATTGAAGAAA	0.348		NA											32	99					0	0	0	0
C15orf39	56905	broad.mit.edu	37	15	75501034	75501034	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:75501034G>A	uc002azp.3	+	2	2965	c.2645G>A	c.(2644-2646)CGG>CAG	p.R882Q	C15orf39_uc002azq.3_Missense_Mutation_p.R882Q|C15orf39_uc002azr.3_Missense_Mutation_p.R280Q	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	882											0						TCGGAGGAGCGGGCACTGCGG	0.672		NA											5	9					0	0	0	0
IL16	3603	broad.mit.edu	37	15	81575048	81575048	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:81575048G>A	uc002bgh.3	+	9	1526	c.1150G>A	c.(1150-1152)GTC>ATC	p.V384I	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.V384I|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.V426I|IL16_uc002bgg.2_Missense_Mutation_p.V384I|IL16_uc002bgi.1_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	384	PDZ 2.|Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						TGGCATTTTCGTCCACACGCT	0.597		NA											34	123					0	0	0	0
BNC1	646	broad.mit.edu	37	15	83926268	83926268	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:83926268G>A	uc002bjt.1	-	5	2999	c.2911C>T	c.(2911-2913)CGC>TGC	p.R971C	BNC1_uc010uos.1_Missense_Mutation_p.R959C	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	971	C2H2-type 6.				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TTTCGACTGCGAACAGACGAA	0.507		NA											59	45					0	0	0	0
AKAP13	11214	broad.mit.edu	37	15	86286764	86286764	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr15:86286764C>G	uc002blv.1	+	36	8270	c.8100C>G	c.(8098-8100)TTC>TTG	p.F2700L	AKAP13_uc002blu.1_Missense_Mutation_p.F2704L|AKAP13_uc002blw.1_Missense_Mutation_p.F1165L|AKAP13_uc002blx.1_Missense_Mutation_p.F945L	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2700	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						TCCCATCGTTCTTCCCCAGTC	0.517		NA											8	58					0	0	0	0
CLCN7	1186	broad.mit.edu	37	16	1498432	1498432	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:1498432A>T	uc002clv.2	-	21	2047	c.1937T>A	c.(1936-1938)GTC>GAC	p.V646D	CLCN7_uc010brq.1_Missense_Mutation_p.V16D|CLCN7_uc002clu.2_Missense_Mutation_p.V94D|CLCN7_uc002clw.2_Missense_Mutation_p.V622D	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	646	Cytoplasmic (By similarity).|CBS 1.					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				GTCCACAATGACGCCGACCTT	0.652		NA											12	24					0	0	0	0
NTN3	4917	broad.mit.edu	37	16	2522335	2522335	+	Silent	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:2522335C>G	uc002cqj.2	+	1	836	c.633C>G	c.(631-633)CTC>CTG	p.L211L	TBC1D24_uc002cqk.2_5'Flank|TBC1D24_uc002cql.2_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	netrin 3 precursor	211	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				central_nervous_system(1)	1						GCCCAGTGCTCCAAGACTGGG	0.672		NA											4	22					0	0	0	0
IQCK	124152	broad.mit.edu	37	16	19838428	19838428	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:19838428C>T	uc002dgr.2	+	9	1470	c.771C>T	c.(769-771)GTC>GTT	p.V257V	IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Missense_Mutation_p.S229L|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_Silent_p.V169V	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	IQ motif containing K	257										skin(1)	1						ACCAGCAAGTCAAAATTTTCT	0.443		NA											7	40					0	0	0	0
LCMT1	51451	broad.mit.edu	37	16	25175987	25175987	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:25175987T>A	uc002dnx.1	+	7	796	c.638T>A	c.(637-639)CTG>CAG	p.L213Q	LCMT1_uc002dny.1_Missense_Mutation_p.L158Q|LCMT1_uc002dnz.1_Missense_Mutation_p.L113Q|LCMT1_uc002doa.1_Missense_Mutation_p.L58Q	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1 isoform a	213							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity				0				GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GCAAACCTCCTGAAGTGGGCA	0.448		NA											9	44					0	0	0	0
IL4R	3566	broad.mit.edu	37	16	27363876	27363876	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:27363876G>A	uc002don.2	+	7	771	c.529G>A	c.(529-531)GTG>ATG	p.V177M	IL4R_uc002dom.2_Missense_Mutation_p.V177M|IL4R_uc002dop.3_Missense_Mutation_p.V162M|IL4R_uc010bxy.2_Missense_Mutation_p.V177M|IL4R_uc002doo.2_Missense_Mutation_p.V17M	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	177	Extracellular (Potential).|Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2						AATCTATAACGTGACCTACCT	0.592		NA											18	60					0	0	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847379	28847379	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:28847379G>A	uc002drc.2	+	22	3189	c.3021G>A	c.(3019-3021)CAG>CAA	p.Q1007Q	uc010vct.1_Intron|ATXN2L_uc002drb.2_Silent_p.Q1007Q|ATXN2L_uc002dqy.2_Silent_p.Q1007Q|ATXN2L_uc002dra.2_Silent_p.Q1007Q|ATXN2L_uc002dqz.2_Silent_p.Q1007Q|ATXN2L_uc010vdb.1_Silent_p.Q1013Q|ATXN2L_uc002dre.2_Silent_p.Q1007Q|ATXN2L_uc002drf.2_Silent_p.Q416Q|ATXN2L_uc002drg.2_Silent_p.Q290Q	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	1007						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CGGTGCCCCAGAGTGGGGTGC	0.706		NA											23	91					0	0	0	0
TOX3	27324	broad.mit.edu	37	16	52473778	52473778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:52473778G>A	uc002egw.2	-	7	1261	c.1090C>T	c.(1090-1092)CAA>TAA	p.Q364*	TOX3_uc010vgt.1_Nonsense_Mutation_p.Q359*|TOX3_uc010vgu.1_Nonsense_Mutation_p.Q364*	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	364					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity				0						GTTCCATGTTGAGACAGTGGA	0.527		NA											12	75					0	0	0	0
CNOT1	23019	broad.mit.edu	37	16	58589282	58589282	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:58589282C>T	uc002env.2	-	21	3057	c.2764G>A	c.(2764-2766)GAG>AAG	p.E922K	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.E917K|CNOT1_uc002enx.2_Missense_Mutation_p.E922K|CNOT1_uc002enz.1_Missense_Mutation_p.E351K	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	922				E -> G (in Ref. 1; ABQ66268).	nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGTCCTTTCTCAATTATACCA	0.388		NA											28	90					0	0	0	0
HSF4	3299	broad.mit.edu	37	16	67203679	67203679	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:67203679C>T	uc002erl.1	+	15	2435	c.1470C>T	c.(1468-1470)CCC>CCT	p.P490P	HSF4_uc002erm.1_Silent_p.P460P|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA|NOL3_uc010vjc.1_5'Flank	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	490					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AAGCCAGTCCCTCCCCCTAAG	0.662		NA									OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	47					0	0	0	0
FAM65A	79567	broad.mit.edu	37	16	67574260	67574260	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:67574260A>G	uc010vjp.1	+	8	781	c.685A>G	c.(685-687)ATG>GTG	p.M229V	FAM65A_uc010cei.1_Missense_Mutation_p.M51V|FAM65A_uc002eth.2_Missense_Mutation_p.M209V|FAM65A_uc010cej.2_Missense_Mutation_p.M212V|FAM65A_uc002eti.1_Missense_Mutation_p.M172V|FAM65A_uc010vjq.1_Missense_Mutation_p.M223V|FAM65A_uc002etj.1_Missense_Mutation_p.M208V|FAM65A_uc002etk.2_Missense_Mutation_p.M208V	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	213						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TCATCTCCGAATGAAAGGTAC	0.612		NA											15	40					0	0	0	0
SF3B3	23450	broad.mit.edu	37	16	70575647	70575647	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:70575647A>G	uc002ezf.2	+	9	1354	c.1143A>G	c.(1141-1143)GAA>GAG	p.E381E		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	381					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				CTCTGGAAGAAGGAGACACAT	0.448		NA											36	99					0	0	0	0
SSH2	85464	broad.mit.edu	37	17	27963169	27963169	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:27963169G>A	uc002heo.1	-	14	1998	c.1998C>T	c.(1996-1998)ACC>ACT	p.T666T	SSH2_uc010wbh.1_Silent_p.T693T	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	666					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						ATCGTGACCGGGTTTCTTGGG	0.493		NA											42	54					0	0	0	0
EFCAB5	374786	broad.mit.edu	37	17	28296203	28296203	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:28296203G>A	uc002het.2	+	4	777	c.585G>A	c.(583-585)AAG>AAA	p.K195K	EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Silent_p.K139K|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Silent_p.K74K|EFCAB5_uc010csf.2_Silent_p.K74K	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	195							calcium ion binding			ovary(1)|skin(1)	2						AAGTAGAAAAGAAGAAGGTTT	0.343		NA											7	27					0	0	0	0
C17orf53	78995	broad.mit.edu	37	17	42228331	42228331	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:42228331G>A	uc002ifi.1	+	4	1412	c.1227G>A	c.(1225-1227)CAG>CAA	p.Q409Q	C17orf53_uc010czq.1_Silent_p.Q409Q|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	409											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCTCTTAGCAGAGTGGGAGAA	0.453		NA											3	20					0	0	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47241498	47241498	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:47241498G>A	uc002ion.2	+	8	1054	c.995G>A	c.(994-996)CGC>CAC	p.R332H	B4GALNT2_uc010wlt.1_Missense_Mutation_p.R246H|B4GALNT2_uc010wlu.1_Missense_Mutation_p.R272H	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	332	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			ACTTTCCTCCGCCCCCACAAG	0.502		NA											60	97					0	0	0	0
GPR142	350383	broad.mit.edu	37	17	72367969	72367969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:72367969C>T	uc010wqy.1	+	4	619	c.619C>T	c.(619-621)CAG>TAG	p.Q207*	GPR142_uc010wqx.1_Nonsense_Mutation_p.Q119*	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	207	Helical; Name=2; (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TATCATCATCCAGGTGGTCAT	0.657		NA											10	11					0	0	0	0
THOC4	10189	broad.mit.edu	37	17	79846187	79846187	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:79846187G>A	uc002kbu.2	-	5	716	c.710C>T	c.(709-711)GCC>GTC	p.A237V		NM_005782	NP_005773	Q86V81	THOC4_HUMAN	THO complex 4	230	Ala/Arg/Gly-rich.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ATTCCTGCCGGCACCTCTGCC	0.647		NA											16	14					0	0	0	0
ESCO1	114799	broad.mit.edu	37	18	19153946	19153946	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr18:19153946G>C	uc002kth.1	-	4	1793	c.859C>G	c.(859-861)CAA>GAA	p.Q287E	ESCO1_uc002kti.1_RNA	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	287					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0						TTATCACTTTGTTCAGGCACT	0.423		NA											23	59					0	0	0	0
UHRF1	29128	broad.mit.edu	37	19	4960672	4960672	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:4960672G>A	uc002mbo.2	+	19	2408	c.2240G>A	c.(2239-2241)TGC>TAC	p.C747Y	UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.C760Y	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	747	RING-type.				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TTACAGGACTGCCTGGACAGA	0.597		NA											6	18					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9047546	9047546	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:9047546G>A	uc002mkp.2	-	5	34289	c.34085C>T	c.(34084-34086)CCC>CTC	p.P11362L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11364	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGTTGTCCTGGGAACTGTTGT	0.488		NA											33	149					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9049324	9049324	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:9049324G>A	uc002mkp.2	-	5	32511	c.32307C>T	c.(32305-32307)GTC>GTT	p.V10769V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10771	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGGATGGGTGACTAATGAGG	0.483		NA											14	97					0	0	0	0
OR7A5	26659	broad.mit.edu	37	19	14938380	14938380	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:14938380A>G	uc002mzw.2	-	1	897	c.674T>C	c.(673-675)ATA>ACA	p.I225T	OR7A5_uc010xoa.1_Missense_Mutation_p.I225T	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)	2						GATTGCATGTATGGAAGAAAT	0.443		NA											16	62					0	0	0	0
BRD4	23476	broad.mit.edu	37	19	15349769	15349769	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:15349769G>A	uc002nar.2	-	19	4027	c.3805C>T	c.(3805-3807)CTG>TTG	p.L1269L		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1269					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCCTGCTCCAGCGCATCCTCG	0.512		NA	T	NUT|C15orf55	lethal midline carcinoma of young people								3	7					0	0	0	0
BRD4	23476	broad.mit.edu	37	19	15350615	15350615	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:15350615G>A	uc002nar.2	-	16	3522	c.3300C>T	c.(3298-3300)TCC>TCT	p.S1100S		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1100					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTGGACCACGGAGGCAGCAC	0.706		NA	T	NUT|C15orf55	lethal midline carcinoma of young people								21	38					0	0	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35516979	35516979	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:35516979C>T	uc010xse.1	+	20	2246	c.2109C>T	c.(2107-2109)CAC>CAT	p.H703H	GRAMD1A_uc002nxk.2_Silent_p.H692H|GRAMD1A_uc002nxl.2_Silent_p.H465H|GRAMD1A_uc010xsf.1_Silent_p.H704H|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Silent_p.H314H	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	703						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAAGCTGCACCAAGGCATCA	0.647		NA											7	25					0	0	0	0
SUPT5H	6829	broad.mit.edu	37	19	39957129	39957129	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:39957129G>A	uc002olo.3	+	12	1065	c.886G>A	c.(886-888)GTG>ATG	p.V296M	SUPT5H_uc002olp.3_Missense_Mutation_p.V296M|SUPT5H_uc002olq.3_Missense_Mutation_p.V292M|SUPT5H_uc002oln.3_Missense_Mutation_p.V296M|SUPT5H_uc002olr.3_Missense_Mutation_p.V296M|SUPT5H_uc002ols.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	296	KOW 1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTGGACTACGTGGAGCCCAG	0.592		NA											13	26					0	0	0	0
TOMM40	10452	broad.mit.edu	37	19	45395690	45395690	+	Silent	SNP	C	C	A	rs142332544	by1000genomes	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:45395690C>A	uc002ozx.3	+	3	416	c.315C>A	c.(313-315)GTC>GTA	p.V105V	TOMM40_uc002ozy.3_Silent_p.V105V|TOMM40_uc002paa.3_Silent_p.V105V|TOMM40_uc002ozz.2_Silent_p.V105V	NM_006114	NP_006105	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40	105					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		AGCTCACAGTCAACAAAGGGT	0.552		NA											10	59					0.00010058	0.000108388	1	0
RELB	5971	broad.mit.edu	37	19	45540982	45540982	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:45540982C>T	uc002paj.1	+	13	1800	c.1674C>T	c.(1672-1674)TTC>TTT	p.F558F	SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	558						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCAACATGTTCCCCAATCATT	0.697		NA											5	33					0	0	0	0
CPT1C	126129	broad.mit.edu	37	19	50212082	50212082	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:50212082G>C	uc002ppj.2	+	13	1757	c.1552G>C	c.(1552-1554)GAC>CAC	p.D518H	CPT1C_uc002ppl.3_Missense_Mutation_p.D484H|CPT1C_uc002ppi.2_Missense_Mutation_p.D435H|CPT1C_uc002ppk.2_Missense_Mutation_p.D507H|CPT1C_uc010eng.2_Missense_Mutation_p.D518H|CPT1C_uc010enh.2_Missense_Mutation_p.D518H|CPT1C_uc010ybc.1_Missense_Mutation_p.D389H|CPT1C_uc010eni.1_Missense_Mutation_p.D175H	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	518	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCTGCAATGGGACCTTCCAGA	0.478		NA											15	39					0	0	0	0
ZNF701	55762	broad.mit.edu	37	19	53086538	53086538	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:53086538G>C	uc002pzs.1	+	4	1353	c.1226G>C	c.(1225-1227)CGT>CCT	p.R409P	ZNF701_uc010ydn.1_Missense_Mutation_p.R475P	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	zinc finger protein 701	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GGAGAGAAACGTTACAAGTGT	0.373		NA											5	41					0	0	0	0
ZNF83	55769	broad.mit.edu	37	19	53116465	53116465	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:53116465G>T	uc002pzu.3	-	2	2597	c.1353C>A	c.(1351-1353)CAC>CAA	p.H451Q	ZNF83_uc002pzv.3_Missense_Mutation_p.H451Q|ZNF83_uc010eps.2_Missense_Mutation_p.H423Q|ZNF83_uc010ept.2_Missense_Mutation_p.H451Q|ZNF83_uc010epu.2_Missense_Mutation_p.H451Q|ZNF83_uc010epv.2_Missense_Mutation_p.H451Q|ZNF83_uc010epw.2_Missense_Mutation_p.H451Q|ZNF83_uc010epx.2_Missense_Mutation_p.H423Q|ZNF83_uc010epy.2_Missense_Mutation_p.H451Q|ZNF83_uc010epz.2_Missense_Mutation_p.H423Q	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	451	C2H2-type 13.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTGTGAATTTTCC	0.388		NA											19	64					7.45e-12	8.57e-12	1	0
PRKCG	5582	broad.mit.edu	37	19	54392993	54392993	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:54392993G>C	uc002qcq.1	+	4	669	c.387G>C	c.(385-387)ATG>ATC	p.M129I	PRKCG_uc010eqz.1_Missense_Mutation_p.M129I|PRKCG_uc010yef.1_Missense_Mutation_p.M129I|PRKCG_uc010yeg.1_Missense_Mutation_p.M129I|PRKCG_uc010yeh.1_Intron	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	129	Phorbol-ester/DAG-type 2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACCAGGGCATGAAATGCTCCT	0.632		NA											4	23					0	0	0	0
FCAR	2204	broad.mit.edu	37	19	55401062	55401062	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:55401062G>A	uc002qhr.1	+	5	894	c.697G>A	c.(697-699)GTG>ATG	p.V233M	FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.V184M|FCAR_uc010esi.1_Missense_Mutation_p.V110M|FCAR_uc002qhu.1_Missense_Mutation_p.V137M|FCAR_uc002qhv.1_Missense_Mutation_p.V211M|FCAR_uc002qhw.1_Missense_Mutation_p.V221M|FCAR_uc002qhx.1_Missense_Mutation_p.V125M|FCAR_uc002qhy.1_Missense_Mutation_p.V199M|FCAR_uc002qhz.1_Missense_Mutation_p.R196H|FCAR_uc002qia.1_Missense_Mutation_p.V124M	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	233	Helical; (Potential).				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)		CCGCATGGCCGTGGCAGGACT	0.527		NA											47	186					0	0	0	0
NLRP7	199713	broad.mit.edu	37	19	55447788	55447788	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:55447788A>G	uc002qih.3	-	6	2217	c.2141T>C	c.(2140-2142)GTC>GCC	p.V714A	NLRP7_uc002qig.3_Missense_Mutation_p.V686A|NLRP7_uc002qii.3_Missense_Mutation_p.V714A|NLRP7_uc010esk.2_Missense_Mutation_p.V714A|NLRP7_uc010esl.2_Missense_Mutation_p.V742A	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	714							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		GTCAGGGGTGACGTTTTTAAT	0.483		NA											6	14					0	0	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967773	58967773	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:58967773C>T	uc002qsv.1	+	4	1569	c.1462C>T	c.(1462-1464)CGC>TGC	p.R488C	ZNF324B_uc002qsu.1_Missense_Mutation_p.R478C|ZNF324B_uc010euq.1_Missense_Mutation_p.R488C	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	488	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAGTGTGGCCGCGCCTTCCG	0.662		NA											7	43					0	0	0	0
LPIN1	23175	broad.mit.edu	37	2	11911611	11911611	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:11911611C>T	uc010yjn.1	+	5	676	c.402C>T	c.(400-402)AGC>AGT	p.S134S	LPIN1_uc010yjm.1_Silent_p.S183S|LPIN1_uc002rbt.2_Silent_p.S134S|LPIN1_uc002rbs.2_Silent_p.S134S	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	134					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGGACCCCAGCACGCCAGCCC	0.572		NA											3	24					0	0	0	0
NRXN1	9378	broad.mit.edu	37	2	50318511	50318511	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:50318511T>A	uc010fbp.2	-	3	1370	c.563A>T	c.(562-564)AAT>ATT	p.N188I	NRXN1_uc002rxb.3_Missense_Mutation_p.N895I|NRXN1_uc010fbq.2_Missense_Mutation_p.N1263I|NRXN1_uc002rxe.3_Missense_Mutation_p.N1223I	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	188	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAACGTGGCATTGCCACCACT	0.453		NA											25	128					0	0	0	0
SPTBN1	6711	broad.mit.edu	37	2	54859772	54859772	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:54859772G>C	uc002rxu.2	+	17	3883	c.3634G>C	c.(3634-3636)GAG>CAG	p.E1212Q	SPTBN1_uc002rxx.2_Missense_Mutation_p.E1199Q	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1212	Spectrin 9.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			TAAAAAGCAAGAGGACTTCAT	0.478		NA											6	39					0	0	0	0
BCL11A	53335	broad.mit.edu	37	2	60687943	60687943	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:60687943G>A	uc002sae.1	-	4	2332	c.2104C>T	c.(2104-2106)CCG>TCG	p.P702S	BCL11A_uc002sab.2_Missense_Mutation_p.P702S|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.P371S|BCL11A_uc010ypj.1_Missense_Mutation_p.P668S|BCL11A_uc002sad.1_Missense_Mutation_p.P550S|BCL11A_uc002saf.1_Missense_Mutation_p.P668S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	702					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCCCCGGGCGGTGTGGAGAAG	0.652		NA	T	IGH@	B-CLL								13	31					0	0	0	0
MBD5	55777	broad.mit.edu	37	2	149247498	149247498	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:149247498G>A	uc002twm.3	+	12	4586	c.3598G>A	c.(3598-3600)GAG>AAG	p.E1200K	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.E1200K|MBD5_uc002two.2_Missense_Mutation_p.E458K|MBD5_uc002twp.2_Missense_Mutation_p.E250K	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1200						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTGGGACGGGGAGCAAAGCCC	0.473		NA											5	81					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179598082	179598082	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:179598082T>A	uc010zfg.1	-	51	12430	c.12206A>T	c.(12205-12207)AAC>ATC	p.N4069I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N730I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4996							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCAACATTGTTTTTAAAACT	0.463		NA											26	41					0	0	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209191008	209191008	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:209191008G>T	uc002vcz.2	+	20	3631	c.3473G>T	c.(3472-3474)AGA>ATA	p.R1158I	PIKFYVE_uc010fun.1_Missense_Mutation_p.R839I|PIKFYVE_uc002vcy.1_Missense_Mutation_p.R1102I	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1158					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						TATCGAGCCAGAGGAGGAAGA	0.463		NA											8	31					0.00307968	0.00322923	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209191022	209191022	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:209191022C>T	uc002vcz.2	+	20	3645	c.3487C>T	c.(3487-3489)CAG>TAG	p.Q1163*	PIKFYVE_uc010fun.1_Nonsense_Mutation_p.Q844*|PIKFYVE_uc002vcy.1_Nonsense_Mutation_p.Q1107*	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1163					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						AGGAAGAATTCAGCCCAAAAA	0.478		NA											9	31					0	0	0	0
FARP2	9855	broad.mit.edu	37	2	242415337	242415337	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:242415337C>T	uc002wbi.1	+	19	2314	c.2197C>T	c.(2197-2199)CTG>TTG	p.L733L	hsa-mir-3133|MI0014153_5'Flank	NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	733					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCTGGAGAACCTGCAGAAGCT	0.557		NA											9	26					0	0	0	0
PLCB1	23236	broad.mit.edu	37	20	8639216	8639216	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:8639216G>T	uc002wnb.2	+	9	730	c.727G>T	c.(727-729)GAT>TAT	p.D243Y	PLCB1_uc010zrb.1_Missense_Mutation_p.D142Y|PLCB1_uc002wna.2_Missense_Mutation_p.D243Y|PLCB1_uc002wnc.1_Missense_Mutation_p.D142Y	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	243					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TCTTACCGTTGATCAGATGAT	0.318		NA											13	52					1.5e-05	1.62e-05	1	0
SEL1L2	80343	broad.mit.edu	37	20	13839917	13839917	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:13839917G>A	uc010gcf.2	-	18	1891	c.1809C>T	c.(1807-1809)GGC>GGT	p.G603G	SEL1L2_uc002woq.3_Silent_p.G464G|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	603	Extracellular (Potential).|Sel1-like 11.					integral to membrane	binding			ovary(2)	2						CCTTTGTGATGCCTAAGCCGT	0.393		NA											11	12					0	0	0	0
FAM83C	128876	broad.mit.edu	37	20	33876280	33876280	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:33876280C>A	uc010zux.1	-	3	908	c.790G>T	c.(790-792)GTG>TTG	p.V264L	FAM83C_uc002xcb.1_Intron	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	264										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTGCCCGCCACCACTTGCTCA	0.602		NA											6	56					0.000157383	0.000168048	1	0
ACTR5	79913	broad.mit.edu	37	20	37396229	37396229	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:37396229C>T	uc002xjd.2	+	8	1581	c.1556C>T	c.(1555-1557)TCT>TTT	p.S519F		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	519					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)				CCCTTCCGGTCTTCTTTTCAG	0.373		NA											7	55					0	0	0	0
SNX21	90203	broad.mit.edu	37	20	44469390	44469390	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:44469390G>A	uc002xpv.1	+	4	649	c.560G>A	c.(559-561)CGG>CAG	p.R187Q	SNX21_uc002xps.1_Missense_Mutation_p.R187Q|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_5'UTR|SNX21_uc002xpx.2_Missense_Mutation_p.R177Q|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_5'UTR|SNX21_uc002xpz.1_5'UTR	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	187	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				CGGCAATTCCGGGGCCCAATG	0.627		NA											31	65					0	0	0	0
NCOA5	57727	broad.mit.edu	37	20	44692044	44692044	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:44692044C>T	uc002xrd.2	-	6	1633	c.1105G>A	c.(1105-1107)GAG>AAG	p.E369K	NCOA5_uc002xrc.2_Missense_Mutation_p.E257K|NCOA5_uc002xre.2_Missense_Mutation_p.E369K	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)				TCCTTCCGCTCTCGCAGGTAG	0.577		NA											5	40					0	0	0	0
DPM1	8813	broad.mit.edu	37	20	49562395	49562395	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr20:49562395G>A	uc002xvw.1	-	4	361	c.361C>T	c.(361-363)CTC>TTC	p.L121F	DPM1_uc002xvv.1_Missense_Mutation_p.L16F|DPM1_uc002xvx.1_RNA	NM_003859	NP_003850	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase 1	121					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			ovary(1)	1						TGGTGTGAGAGATCAGCATCC	0.323		NA											32	43					0	0	0	0
BRWD1	54014	broad.mit.edu	37	21	40572223	40572223	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr21:40572223C>T	uc002yxk.1	-	39	4814	c.4675G>A	c.(4675-4677)GAA>AAA	p.E1559K	BRWD1_uc010goc.1_Missense_Mutation_p.E202K|BRWD1_uc002yxl.2_Missense_Mutation_p.E1559K	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAGGAGGATTCACGAGCTCTG	0.443		NA											15	28					0	0	0	0
TSSK2	23617	broad.mit.edu	37	22	19118919	19118919	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:19118919G>A	uc002zow.2	+	1	599	c.7G>A	c.(7-9)GAT>AAT	p.D3N	DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	3					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1	Colorectal(54;0.0993)					CACCATGGACGATGCCACAGT	0.562		NA											6	13					0	0	0	0
PES1	23481	broad.mit.edu	37	22	30983347	30983347	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:30983347C>G	uc003aij.1	-	4	368	c.294G>C	c.(292-294)AAG>AAC	p.K98N	PES1_uc003aik.1_Missense_Mutation_p.K98N|PES1_uc003ail.1_Missense_Mutation_p.K98N|PES1_uc003aim.1_Missense_Mutation_p.K98N|PES1_uc003ain.1_5'UTR|PES1_uc003aio.1_5'UTR	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	98	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						TCCACTCGCTCTTCCCATAAG	0.507		NA											13	55					0	0	0	0
NPTXR	23467	broad.mit.edu	37	22	39218697	39218697	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:39218697G>A	uc003awk.2	-	5	1574	c.1420C>T	c.(1420-1422)CCC>TCC	p.P474S		NM_014293	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	474	Pentaxin.|Extracellular (Potential).					integral to membrane	metal ion binding			central_nervous_system(2)|skin(1)	3	Melanoma(58;0.04)					TCTTCCCAGGGAAGGACGTTG	0.617		NA											6	17					0	0	0	0
MCHR1	2847	broad.mit.edu	37	22	41077104	41077104	+	Silent	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:41077104C>A	uc003ayz.2	+	2	709	c.441C>A	c.(439-441)CCC>CCA	p.P147P	MCHR1_uc003aza.2_Silent_p.P36P	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	147	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0						ACAACGTCCCCGACATCTTCA	0.562		NA											14	54					0.000151284	0.000162729	1	0
ATXN10	25814	broad.mit.edu	37	22	46088947	46088947	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:46088947C>G	uc003bgm.1	+	3	637	c.380C>G	c.(379-381)TCT>TGT	p.S127C	ATXN10_uc011aqt.1_Missense_Mutation_p.S63C|ATXN10_uc003bgn.1_Translation_Start_Site	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	127					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		p.S127C(1)		ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GAACAGGAATCTCTGTTGACA	0.328		NA											8	27					0	0	0	0
MLC1	23209	broad.mit.edu	37	22	50500013	50500013	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr22:50500013C>T	uc003bjg.1	-	12	1406	c.1133G>A	c.(1132-1134)TGA>TAA	p.*378*	MLC1_uc011arl.1_Silent_p.*326*|MLC1_uc003bjh.1_Silent_p.*378*|MLC1_uc011arm.1_Silent_p.*348*|MLC1_uc011arn.1_Silent_p.*299*|MLC1_uc011aro.1_Silent_p.*344*	NM_139202	NP_631941	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with	378						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			pancreas(1)	1		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GTCTGGGGGTCACTGGGCCAT	0.607		NA											10	37					0	0	0	0
ATRIP	84126	broad.mit.edu	37	3	48505262	48505262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:48505262C>T	uc003ctf.1	+	9	1896	c.1864C>T	c.(1864-1866)CAG>TAG	p.Q622*	ATRIP_uc011bbj.1_Nonsense_Mutation_p.Q495*|ATRIP_uc003ctg.1_Nonsense_Mutation_p.Q622*|TREX1_uc010hjy.2_5'UTR|TREX1_uc003ctj.2_5'Flank|TREX1_uc003ctk.2_5'Flank|TREX1_uc010hjz.2_5'Flank|TREX1_uc010hka.2_5'Flank	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	ATR interacting protein isoform 1	622					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTGGCACCTCAGCTCTGTTC	0.627		NA						Other_conserved_DNA_damage_response_genes					5	26					0	0	0	0
HYAL2	8692	broad.mit.edu	37	3	50357479	50357479	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:50357479T>C	uc003czu.2	-	2	662	c.442A>G	c.(442-444)AAA>GAA	p.K148E	HYAL2_uc003czx.2_Missense_Mutation_p.K148E|HYAL2_uc003czv.2_Missense_Mutation_p.K148E|HYAL2_uc003czw.2_Missense_Mutation_p.K148E|HYAL2_uc010hlj.2_Missense_Mutation_p.K148E	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2 precursor	148						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	TACACATCTTTGTCCTGCCAG	0.572		NA											36	15					0	0	0	0
VPRBP	9730	broad.mit.edu	37	3	51450829	51450829	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:51450829C>T	uc003dbe.1	-	20	4111	c.3943G>A	c.(3943-3945)GCA>ACA	p.A1315T	VPRBP_uc003dbf.1_Missense_Mutation_p.A591T	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	1315					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCATCATCTGCCTGCAACATA	0.433		NA											5	8					0	0	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54420765	54420765	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:54420765A>T	uc003dhf.2	+	4	393	c.345A>T	c.(343-345)GAA>GAT	p.E115D	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E21D|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Translation_Start_Site	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	115	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTGCAGAAGAAGCACACCTGA	0.393		NA											4	0					0	0	0	0
ALCAM	214	broad.mit.edu	37	3	105258904	105258904	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:105258904G>A	uc003dvx.2	+	7	1356	c.816G>A	c.(814-816)GGG>GGA	p.G272G	ALCAM_uc003dvw.1_Silent_p.G272G|ALCAM_uc003dvy.2_Silent_p.G272G|ALCAM_uc011bhh.1_Silent_p.G221G|ALCAM_uc010hpp.2_Intron	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	272	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						AATGCTTAGGGAATGGCAACC	0.398		NA											21	107					0	0	0	0
BOC	91653	broad.mit.edu	37	3	112968723	112968723	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:112968723C>A	uc003dzx.2	+	3	695	c.74C>A	c.(73-75)ACA>AAA	p.T25K	BOC_uc010hqi.2_Missense_Mutation_p.T25K|BOC_uc003dzy.2_Missense_Mutation_p.T25K|BOC_uc003dzz.2_Missense_Mutation_p.T25K|BOC_uc003dzw.1_Missense_Mutation_p.T25K|BOC_uc003eaa.1_Missense_Mutation_p.T25K	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	25					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			CTCCTAGCCACAGCAGGCTGC	0.507		NA											6	23					3.6e-05	3.89e-05	1	0
GPR156	165829	broad.mit.edu	37	3	119912164	119912164	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:119912164C>T	uc011bjf.1	-	3	341	c.341G>A	c.(340-342)AGC>AAC	p.S114N	GPR156_uc011bjg.1_Missense_Mutation_p.S114N	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	114	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)		TTCCATTGAGCTCCCCACTAA	0.413		NA											27	44					0	0	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998727	120998727	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:120998727C>T	uc003eec.3	+	19	2174	c.2034C>T	c.(2032-2034)ACC>ACT	p.T678T	STXBP5L_uc011bji.1_Silent_p.T678T	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	678	WD 10.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GCATGGGGACCATTGACCTAT	0.398		NA											42	55					0	0	0	0
CASR	846	broad.mit.edu	37	3	122003858	122003858	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:122003858G>A	uc003eev.3	+	7	3429	c.3057G>A	c.(3055-3057)GGG>GGA	p.G1019G	CASR_uc003eew.3_Silent_p.G1029G	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	1019	Cytoplasmic (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGCAGTGCGGGGAAACGGACT	0.602		NA											13	58					0	0	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629889	122629889	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:122629889A>T	uc003efz.1	-	22	3399	c.3095T>A	c.(3094-3096)TTC>TAC	p.F1032Y	SEMA5B_uc011bju.1_Missense_Mutation_p.F938Y|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.F1032Y|SEMA5B_uc003efy.1_Missense_Mutation_p.F10Y	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	1032	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GATGAGATTGAACCCTAGGGG	0.587		NA											11	14					0	0	0	0
KALRN	8997	broad.mit.edu	37	3	124413262	124413262	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:124413262C>T	uc003ehg.2	+	53	7616	c.7489C>T	c.(7489-7491)CGG>TGG	p.R2497W	KALRN_uc003ehk.2_Missense_Mutation_p.R800W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2496	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						AGTCTGTGGGCGGCCAAAGCC	0.527		NA											42	58					0	0	0	0
PLXND1	23129	broad.mit.edu	37	3	129293182	129293182	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:129293182G>A	uc003emx.2	-	12	2782	c.2682C>T	c.(2680-2682)CGC>CGT	p.R894R		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	894	IPT/TIG 1.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						TGCTTACCGCGTGGATCTCGG	0.701		NA											3	11					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130289961	130289961	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:130289961G>A	uc010htl.2	+	6	2732	c.2701G>A	c.(2701-2703)GAA>AAA	p.E901K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	901	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CATGTTCACTGAAGCCCGGGG	0.532		NA											10	18					0	0	0	0
ASTE1	28990	broad.mit.edu	37	3	130743229	130743229	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:130743229C>G	uc003env.1	-	3	1364	c.922G>C	c.(922-924)GAC>CAC	p.D308H	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.D308H|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	308					DNA repair		nuclease activity				0						TGGAAGAAGTCCTGTAGCTTC	0.423		NA											7	79					0	0	0	0
PLSCR4	57088	broad.mit.edu	37	3	145917612	145917612	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:145917612A>G	uc010huy.2	-	6	941	c.612T>C	c.(610-612)TCT>TCC	p.S204S	PLSCR4_uc010huz.2_Silent_p.S204S|PLSCR4_uc003evt.3_Silent_p.S204S|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	204	Cytoplasmic (By similarity).				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0						CTTGTCTGGCAGAGGGGCAAC	0.502		NA											6	17					0	0	0	0
IFT80	57560	broad.mit.edu	37	3	160095241	160095241	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:160095241T>C	uc011boy.1	-	4	780	c.347A>G	c.(346-348)TAT>TGT	p.Y116C	IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_5'UTR|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	116	WD 2.					cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGTTCCTTCATAATTCCATCT	0.308		NA											10	61					0	0	0	0
PEX5L	51555	broad.mit.edu	37	3	179525537	179525538	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:179525537_179525538GC>TT	uc003fki.1	-	14	1730_1731	c.1600_1601GC>AA	c.(1600-1602)GCA>AAA	p.A534K	PEX5L_uc011bqd.1_Missense_Mutation_p.A491K|PEX5L_uc011bqe.1_Missense_Mutation_p.A342K|PEX5L_uc011bqf.1_Missense_Mutation_p.A426K|PEX5L_uc003fkj.1_Missense_Mutation_p.A499K|PEX5L_uc010hxd.1_Missense_Mutation_p.A532K|PEX5L_uc011bqg.1_Missense_Mutation_p.A510K|PEX5L_uc011bqh.1_Missense_Mutation_p.A475K	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	534	TPR 4.				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AATCTCCAGTGCTCGCGTATAG	0.554		NA											63	108					0	0	0	0
PARL	55486	broad.mit.edu	37	3	183560190	183560190	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:183560190G>A	uc003fmd.2	-	6	712	c.653C>T	c.(652-654)TCC>TTC	p.S218F	PARL_uc003fme.2_Intron	NM_018622	NP_061092	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like isoform 1	218	Helical; (Potential).				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity				0	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTGAAATAAGGAGAAATGACT	0.398		NA											21	87					0	0	0	0
VPS8	23355	broad.mit.edu	37	3	184567769	184567769	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr3:184567769A>G	uc003fpb.1	+	9	877	c.706A>G	c.(706-708)ACA>GCA	p.T236A	VPS8_uc010hyd.1_Missense_Mutation_p.T236A	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	238							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AAGATCAATAACAGATGCTCA	0.313		NA											8	46					0	0	0	0
HTT	3064	broad.mit.edu	37	4	3225795	3225795	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:3225795A>G	uc011bvq.1	+	57	7853	c.7708A>G	c.(7708-7710)ATT>GTT	p.I2570V		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2568					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAGAGAGAATATTGCCACCCA	0.468		NA											22	82					0	0	0	0
STIM2	57620	broad.mit.edu	37	4	27004653	27004653	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:27004653G>A	uc003gsh.3	+	7	1385	c.1169G>A	c.(1168-1170)CGG>CAG	p.R390Q	STIM2_uc003gsg.3_Missense_Mutation_p.R390Q|STIM2_uc010iex.2_Missense_Mutation_p.R390Q|STIM2_uc010iey.2_Missense_Mutation_p.R14Q	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	303	Cytoplasmic (Potential).|Potential.				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				GAGGCTTGTCGGCTGAGAGAG	0.388		NA											13	28					0	0	0	0
COMMD8	54951	broad.mit.edu	37	4	47458656	47458656	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:47458656G>C	uc003gxi.2	-	3	321	c.313C>G	c.(313-315)CTG>GTG	p.L105V		NM_017845	NP_060315	Q9NX08	COMD8_HUMAN	COMM domain containing 8	105							protein binding				0						TCTCTTGACAGAGCCTGTTTG	0.328		NA											19	82					0	0	0	0
SLC10A4	201780	broad.mit.edu	37	4	48487038	48487038	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:48487038C>A	uc003gyc.2	+	2	899	c.680C>A	c.(679-681)CCT>CAT	p.P227H		NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	227	Extracellular (Potential).					integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)	1						ATCAACACCCCTATCGTGCAG	0.552		NA											62	126					6.27e-30	7.32e-30	1	0
LRRC66	339977	broad.mit.edu	37	4	52861475	52861475	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:52861475A>G	uc003gzi.2	-	4	1726	c.1713T>C	c.(1711-1713)TAT>TAC	p.Y571Y		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	571						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						CATTGGAATCATAACGGCTTG	0.498		NA											23	92					0	0	0	0
SCARB2	950	broad.mit.edu	37	4	77116980	77116980	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:77116980G>A	uc003hju.1	-	2	494	c.155C>T	c.(154-156)TCC>TTC	p.S52F	SCARB2_uc011cbu.1_Missense_Mutation_p.S52F	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	52	Lumenal (Potential).				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity				0			Lung(101;0.196)			CTTCTCCCAGGAGTCAAATGC	0.438		NA											25	35					0	0	0	0
CCDC158	339965	broad.mit.edu	37	4	77300534	77300534	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:77300534G>A	uc003hkb.3	-	8	1091	c.938C>T	c.(937-939)TCT>TTT	p.S313F	CCDC158_uc003hkd.2_Missense_Mutation_p.S313F	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	313	Potential.									skin(3)|ovary(2)|pancreas(1)	6						CATATACATAGAGTTTTGGTT	0.383		NA											10	41					0	0	0	0
CCNG2	901	broad.mit.edu	37	4	78081922	78081923	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:78081922_78081923GC>TT	uc003hkq.3	+	4	628_629	c.325_326GC>TT	c.(325-327)GCT>TTT	p.A109F	CCNG2_uc003hkn.3_Missense_Mutation_p.A109F|CCNG2_uc011ccc.1_Missense_Mutation_p.A109F|CCNG2_uc003hkp.3_Missense_Mutation_p.A109F	NM_004354	NP_004345	Q16589	CCNG2_HUMAN	cyclin G2	109					cell cycle checkpoint|cell division|mitosis	cytoplasm				ovary(2)|lung(1)	3						TTTTTTGCTGGCTGCTAGAATA	0.386		NA											41	78					0	0	0	0
TACR3	6870	broad.mit.edu	37	4	104640669	104640669	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:104640669G>A	uc003hxe.1	-	1	307	c.164C>T	c.(163-165)CCT>CTT	p.P55L		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	55	Extracellular (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CAGCGCGGAAGGGGAGGAGGA	0.697		NA											7	36					0	0	0	0
TIGD4	201798	broad.mit.edu	37	4	153691231	153691231	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:153691231G>A	uc003imy.2	-	2	1708	c.926C>T	c.(925-927)TCA>TTA	p.S309L		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	309	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)					AGATAAACATGATGGAAAGAA	0.343		NA											6	46					0	0	0	0
FGG	2266	broad.mit.edu	37	4	155528082	155528082	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:155528082G>T	uc003ioj.2	-	8	1045	c.904C>A	c.(904-906)CTA>ATA	p.L302I	FGG_uc003iog.2_Missense_Mutation_p.L302I|FGG_uc003ioh.2_Missense_Mutation_p.L310I|FGG_uc010ipx.2_Missense_Mutation_p.L130I|FGG_uc010ipy.2_Missense_Mutation_p.L13I|FGG_uc003ioi.2_Missense_Mutation_p.L13I|FGG_uc003iok.2_Missense_Mutation_p.L310I	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	302	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCATATGTTAGGCGGTACTTG	0.478		NA											9	55					1.77e-08	1.99e-08	1	0
KIAA1712	80817	broad.mit.edu	37	4	175229984	175229984	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr4:175229984G>A	uc003itr.2	+	7	1066	c.652G>A	c.(652-654)GTT>ATT	p.V218I	KIAA1712_uc010iro.2_Missense_Mutation_p.V218I|KIAA1712_uc003its.2_RNA	NM_001040157	NP_001035247	Q9C0F1	CEP44_HUMAN	HBV PreS1-transactivated protein 3 isoform a	218						centrosome|midbody|spindle pole					0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)		TGAAGTAAAGGTTCCTGAAAT	0.328		NA											4	27					0	0	0	0
MARCH11	441061	broad.mit.edu	37	5	16177895	16177895	+	Silent	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:16177895G>T	uc003jfo.2	-	2	846	c.633C>A	c.(631-633)ACC>ACA	p.T211T	uc003jfp.2_5'Flank	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	211	RING-CH-type.					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0						AAAGTTCACAGGTCCAGGAAC	0.408		NA											7	42					2.01e-06	2.21e-06	1	0
CDH18	1016	broad.mit.edu	37	5	19747278	19747278	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:19747278G>A	uc003jgc.2	-	3	673	c.296C>T	c.(295-297)ACT>ATT	p.T99I	CDH18_uc003jgd.2_Missense_Mutation_p.T99I|CDH18_uc011cnm.1_Missense_Mutation_p.T99I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	99	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATAAATATAGTCCCAGCACC	0.418		NA											41	51					0	0	0	0
C6	729	broad.mit.edu	37	5	41153999	41153999	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:41153999C>T	uc003jmk.2	-	15	2413	c.2203G>A	c.(2203-2205)GGC>AGC	p.G735S	C6_uc003jml.1_Missense_Mutation_p.G735S	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	735	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACAACAAAGCCTTTGGGGCAA	0.473		NA											12	45					0	0	0	0
FGF10	2255	broad.mit.edu	37	5	44305279	44305279	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:44305279C>T	uc003jog.1	-	3	445	c.445G>A	c.(445-447)GAC>AAC	p.D149N		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	149					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			lung(3)	3	Lung NSC(6;1.12e-06)					AGCTTACAGTCATTGTTAAAT	0.378		NA											12	86					0	0	0	0
EMB	133418	broad.mit.edu	37	5	49706781	49706781	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:49706781G>A	uc003jom.2	-	4	651	c.402C>T	c.(400-402)AGC>AGT	p.S134S	EMB_uc003jol.2_Silent_p.S65S|EMB_uc011cpy.1_Silent_p.S84S|EMB_uc010ivr.2_Silent_p.S80S	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	embigin precursor	134	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane					0	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CCATTTGTTTGCTATTAATGA	0.284		NA											5	18					0	0	0	0
HTR1A	3350	broad.mit.edu	37	5	63256935	63256935	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:63256935G>T	uc011cqt.1	-	1	612	c.612C>A	c.(610-612)TTC>TTA	p.F204L		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	204	Helical; Name=5; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCGGGATGTAGAAAGCTCCAA	0.582		NA											27	66					7.76e-22	9.02e-22	1	0
SLCO4C1	353189	broad.mit.edu	37	5	101572684	101572684	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:101572684A>G	uc003knm.2	-	13	2340	c.2053T>C	c.(2053-2055)TTT>CTT	p.F685L		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	685	Helical; Name=12; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAGATTGCAAATCCATTGAAG	0.308		NA											13	10					0	0	0	0
COMMD10	51397	broad.mit.edu	37	5	115628170	115628170	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:115628170T>C	uc003krt.1	+	7	616	c.593T>C	c.(592-594)CTG>CCG	p.L198P		NM_016144	NP_057228	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	198	COMM.						protein binding			ovary(1)	1		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		CAAGCACAGCTGGATTCCCTT	0.373		NA											20	33					0	0	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590345	140590345	+	Silent	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:140590345C>G	uc003liz.2	+	1	2055	c.1866C>G	c.(1864-1866)GGC>GGG	p.G622G	PCDHB12_uc011dak.1_Silent_p.G285G	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	622	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCACAATGGCGAGGTGCGCA	0.701		NA											12	46					0	0	0	0
GABRB2	2561	broad.mit.edu	37	5	160758096	160758097	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:160758096_160758097GG>TA	uc003lys.1	-	9	1088_1089	c.870_871CC>TA	c.(868-873)ACCCAC>ACTAAC	p.H291N	GABRB2_uc011deh.1_Missense_Mutation_p.H130N|GABRB2_uc003lyr.1_Missense_Mutation_p.H291N|GABRB2_uc003lyt.1_Missense_Mutation_p.H291N|GABRB2_uc010jiu.1_Missense_Mutation_p.H228N	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	291	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCCGGAGGTGGGTGTTGATTG	0.426		NA											14	61					0	0	0	0
FAM193B	54540	broad.mit.edu	37	5	176951848	176951848	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:176951848T>A	uc003mhs.3	-	8	3124	c.1535A>T	c.(1534-1536)CAC>CTC	p.H512L	FAM193B_uc003mhr.2_Missense_Mutation_p.H49L|FAM193B_uc003mht.2_Missense_Mutation_p.H171L|FAM193B_uc003mhu.2_Missense_Mutation_p.H224L|FAM193B_uc003mhv.2_Missense_Mutation_p.H171L|FAM193B_uc003mhw.2_RNA	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN	hypothetical protein LOC54540	545											0						TTGTAACGTGTGGTTCTGAGG	0.617		NA											7	2					0	0	0	0
SNRNP48	154007	broad.mit.edu	37	6	7601613	7601613	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:7601613C>T	uc003mxr.2	+	5	510	c.451C>T	c.(451-453)CGG>TGG	p.R151W	SNRNP48_uc003mxs.2_RNA	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	U11/U12 snRNP 48K	151					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding				0						GAATCACAAACGGTTTGTTTG	0.328		NA											17	54					0	0	0	0
BAT2	7916	broad.mit.edu	37	6	31598493	31598493	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:31598493G>C	uc003nvb.3	+	15	2629	c.2380G>C	c.(2380-2382)GAT>CAT	p.D794H	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.D794H	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	794	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						CTGGGTAGGAGATGTCTTCAC	0.597		NA											15	30					0	0	0	0
DNAH8	1769	broad.mit.edu	37	6	38819387	38819387	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:38819387C>T	uc003ooe.1	+	37	5352	c.4752C>T	c.(4750-4752)TTC>TTT	p.F1584F		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CAAGATTCTTCTTTGTATCTG	0.353		NA											6	34					0	0	0	0
TREML1	340205	broad.mit.edu	37	6	41119090	41119090	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:41119090G>C	uc011duc.1	-	3	453	c.409C>G	c.(409-411)CTG>GTG	p.L137V	TREML1_uc003opx.2_Missense_Mutation_p.L137V|TREML1_uc011dud.1_Missense_Mutation_p.L26V	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid	137	Extracellular (Potential).				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(1)	1	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTCTCAGCCAGACTGCCAATC	0.517		NA											16	52					0	0	0	0
CD109	135228	broad.mit.edu	37	6	74477802	74477802	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:74477802G>T	uc003php.2	+	14	1947	c.1522G>T	c.(1522-1524)GCT>TCT	p.A508S	CD109_uc010kaz.2_Missense_Mutation_p.A508S|CD109_uc003phq.2_Missense_Mutation_p.A508S|CD109_uc010kba.2_Missense_Mutation_p.A431S	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	508						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						ACAGTTGGTGGCTGTAGGAAA	0.363		NA											17	38					2.23e-06	2.45e-06	1	0
BVES	11149	broad.mit.edu	37	6	105573428	105573428	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:105573428C>G	uc003pqw.2	-	4	534	c.377G>C	c.(376-378)GGC>GCC	p.G126A	BVES_uc003pqx.2_Missense_Mutation_p.G126A|BVES_uc003pqy.2_Missense_Mutation_p.G126A	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	126	Cytoplasmic (Potential).				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CCGGTACATGCCACTGAGTTC	0.438		NA											13	67					0	0	0	0
RFX6	222546	broad.mit.edu	37	6	117248219	117248219	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:117248219C>A	uc003pxm.2	+	17	1978	c.1915C>A	c.(1915-1917)CAT>AAT	p.H639N		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	639					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						GATTGCTGGTCATCTGATGAC	0.453		NA											19	55					1.26e-06	1.4e-06	1	0
C6orf204	387119	broad.mit.edu	37	6	118887420	118887420	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:118887420G>A	uc003pxz.1	-	3	880	c.292C>T	c.(292-294)CCT>TCT	p.P98S	C6orf204_uc003pya.1_Missense_Mutation_p.P101S|C6orf204_uc003pyb.2_Missense_Mutation_p.P98S|C6orf204_uc011ebj.1_5'UTR|C6orf204_uc003pyc.2_Missense_Mutation_p.P101S|C6orf204_uc011ebl.1_5'UTR	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	98						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		TGGGCAGTAGGAAGAGTAATC	0.388		NA											3	26					0	0	0	0
C6orf58	352999	broad.mit.edu	37	6	127899855	127899855	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:127899855G>A	uc003qbh.2	+	2	338	c.326G>A	c.(325-327)AGG>AAG	p.R109K		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	hypothetical protein LOC352999 precursor	109						extracellular region					0				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CCAACCCGAAGGACAAACTGT	0.418		NA											53	64					0	0	0	0
LAMA2	3908	broad.mit.edu	37	6	129621886	129621886	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:129621886G>A	uc003qbn.2	+	22	3148	c.3043G>A	c.(3043-3045)GAA>AAA	p.E1015K	LAMA2_uc003qbo.2_Missense_Mutation_p.E1015K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1015	Laminin EGF-like 11.				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)		TGAAGCTTGTGAATGTTCTCA	0.378		NA											30	35					0	0	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129950552	129950552	+	Silent	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:129950552T>C	uc003qbr.2	-	5	821	c.732A>G	c.(730-732)AAA>AAG	p.K244K	ARHGAP18_uc011ebw.1_Silent_p.K244K	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	244					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TGGAGCTCTCTTTCTGATTGA	0.418		NA											20	72					0	0	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129959657	129959657	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:129959657G>T	uc003qbr.2	-	3	523	c.434C>A	c.(433-435)GCA>GAA	p.A145E	ARHGAP18_uc011ebw.1_Missense_Mutation_p.A145E	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	145					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AACTGCTGCTGCCTGGGTCCG	0.478		NA											25	72					5.35e-06	5.84e-06	1	0
GRM1	2911	broad.mit.edu	37	6	146755040	146755040	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:146755040C>T	uc010khw.1	+	9	3163	c.2693C>T	c.(2692-2694)CCA>CTA	p.P898L	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_Intron|GRM1_uc011eea.1_Intron	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	898	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGGTCTGAACCAGGTGGAGGA	0.458		NA											4	32					0	0	0	0
TAB2	23118	broad.mit.edu	37	6	149700391	149700391	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:149700391C>T	uc003qmj.2	+	3	1518	c.1340C>T	c.(1339-1341)TCT>TTT	p.S447F	TAB2_uc011eec.1_Missense_Mutation_p.S415F|TAB2_uc010kia.1_Missense_Mutation_p.S447F|TAB2_uc010kib.1_Missense_Mutation_p.S447F|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	447					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						GGCAATAACTCTGCAACCTCT	0.502		NA											22	60					0	0	0	0
C6orf97	80129	broad.mit.edu	37	6	151859372	151859372	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:151859372C>T	uc003qol.2	+	3	468	c.379C>T	c.(379-381)CAC>TAC	p.H127Y		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	127	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		AATCACAGCTCACGCTGCAAT	0.363		NA											10	29					0	0	0	0
UNC93A	54346	broad.mit.edu	37	6	167728907	167728907	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:167728907G>A	uc003qvq.2	+	8	1516	c.1341G>A	c.(1339-1341)CAG>CAA	p.Q447Q	UNC93A_uc003qvr.2_Silent_p.Q405Q	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	447						integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGGTCAACCAGGCAGAGGATG	0.532		NA											38	61					0	0	0	0
RADIL	55698	broad.mit.edu	37	7	4862158	4862158	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:4862158G>A	uc003snj.1	-	6	1655	c.1482C>T	c.(1480-1482)TGC>TGT	p.C494C	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_5'UTR|RADIL_uc011jwc.1_Silent_p.C254C|RADIL_uc011jwd.1_Intron	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	494					cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CAGCCATGGCGCAGCTGGCCA	0.532		NA											18	28					0	0	0	0
ANLN	54443	broad.mit.edu	37	7	36459826	36459826	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:36459826G>C	uc003tff.2	+	11	2122	c.1918G>C	c.(1918-1920)GAT>CAT	p.D640H	ANLN_uc011kaz.1_Missense_Mutation_p.D552H|ANLN_uc003tfg.2_Missense_Mutation_p.D603H|ANLN_uc010kxe.2_Missense_Mutation_p.D602H	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	640	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						CAGCAGAAGTGATGAAAGTCC	0.403		NA											7	57					0	0	0	0
HUS1	3364	broad.mit.edu	37	7	48007409	48007409	+	Missense_Mutation	SNP	A	A	C	rs79656108		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:48007409A>C	uc003tod.1	-	7	884	c.754T>G	c.(754-756)TTA>GTA	p.L252V	HUS1_uc003toe.1_Missense_Mutation_p.L252V|HUS1_uc011kce.1_RNA	NM_004507	NP_004498	O60921	HUS1_HUMAN	HUS1 checkpoint protein	252					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			ovary(2)|lung(2)|kidney(1)	5		Breast(660;0.00139)				TCACTGCATAAGGCCTTTGTG	0.388		NA						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					23	40					0	0	0	0
ABCA13	154664	broad.mit.edu	37	7	48313389	48313389	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:48313389G>C	uc003toq.2	+	17	4151	c.4126G>C	c.(4126-4128)GAC>CAC	p.D1376H	ABCA13_uc010kyr.2_Missense_Mutation_p.D879H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1376					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ACGTATTCTAGACACGTTAAA	0.328		NA											6	15					0	0	0	0
GRB10	2887	broad.mit.edu	37	7	50663143	50663143	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:50663143C>A	uc003tpi.2	-	15	1660	c.1629G>T	c.(1627-1629)CAG>CAT	p.Q543H	GRB10_uc003tph.3_Missense_Mutation_p.Q485H|GRB10_uc003tpj.2_Missense_Mutation_p.Q497H|GRB10_uc003tpk.2_Missense_Mutation_p.Q543H|GRB10_uc010kzb.2_Missense_Mutation_p.Q485H|GRB10_uc003tpl.2_Missense_Mutation_p.Q537H|GRB10_uc003tpm.2_Missense_Mutation_p.Q485H|GRB10_uc003tpn.2_Missense_Mutation_p.Q485H	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	543	SH2.				insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					CAGGTAAGATCTGGAAATTTT	0.398		NA							Russell-Silver_syndrome				56	99					2.31e-43	2.71e-43	1	0
PEX1	5189	broad.mit.edu	37	7	92120800	92120800	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:92120800G>C	uc003uly.2	-	21	3320	c.3224C>G	c.(3223-3225)TCT>TGT	p.S1075C	PEX1_uc011khr.1_Missense_Mutation_p.S867C|PEX1_uc010ley.2_Missense_Mutation_p.S1018C|PEX1_uc011khs.1_Missense_Mutation_p.S753C	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	1075					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GTCACTATCAGAGCTGGAACT	0.373		NA											16	63					0	0	0	0
CALCR	799	broad.mit.edu	37	7	93073008	93073008	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:93073008A>G	uc003umv.1	-	10	1073	c.812T>C	c.(811-813)ATG>ACG	p.M271T	CALCR_uc011kia.1_Missense_Mutation_p.M51T|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.M237T|CALCR_uc003umw.2_Missense_Mutation_p.M237T	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	253	Helical; Name=3; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTCACAGAGCATCCAGAAATA	0.443		NA											27	71					0	0	0	0
MLL5	55904	broad.mit.edu	37	7	104752438	104752438	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:104752438C>G	uc003vcm.2	+	27	4769	c.4235C>G	c.(4234-4236)TCA>TGA	p.S1412*	MLL5_uc010ljc.2_Nonsense_Mutation_p.S1412*|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Nonsense_Mutation_p.S146*	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1412					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						CAAGCACTTTCAAAGAATCAT	0.433		NA											17	81					0	0	0	0
MDFIC	29969	broad.mit.edu	37	7	114619638	114619638	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:114619638G>C	uc003vhf.2	+	4	885	c.622G>C	c.(622-624)GGC>CGC	p.G208R		NM_199072	NP_951038	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing protein	99					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus	cyclin binding|Tat protein binding			ovary(1)	1						GATAAAGAACGGCCACACAGG	0.473		NA											16	20					0	0	0	0
ING3	54556	broad.mit.edu	37	7	120590962	120590962	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:120590962A>G	uc003vjn.2	+	1	146	c.12A>G	c.(10-12)CTA>CTG	p.L4L	ING3_uc011knr.1_Silent_p.L4L|ING3_uc003vjl.2_Silent_p.L4L|ING3_uc003vjm.1_Silent_p.L4L|ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Silent_p.L4L|ING3_uc011kns.1_5'Flank	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3 isoform 1	4					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			ovary(1)	1	all_neural(327;0.117)					TGTTGTACCTAGAAGACTATC	0.443		NA											25	74					0	0	0	0
MKLN1	4289	broad.mit.edu	37	7	131122674	131122674	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:131122674A>T	uc011kpm.1	+	10	1155	c.1091A>T	c.(1090-1092)TAT>TTT	p.Y364F	MKLN1_uc011kpl.1_Missense_Mutation_p.Y341F|MKLN1_uc010lmh.2_Missense_Mutation_p.Y364F|MKLN1_uc003vqs.2_Missense_Mutation_p.Y157F	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing	364	Kelch 2.				signal transduction	cytoplasm	protein binding			breast(1)	1	Melanoma(18;0.162)					TTCTATCGTTATGACATTGAT	0.413		NA											56	75					0	0	0	0
PLXNA4	91584	broad.mit.edu	37	7	131870132	131870132	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:131870132G>C	uc003vra.3	-	16	3313	c.3084C>G	c.(3082-3084)ATC>ATG	p.I1028M		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1028	IPT/TIG 2.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GGTCCTGGTGGATCTTGGCCC	0.557		NA											8	45					0	0	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417901	150417901	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr7:150417901C>T	uc003whq.2	+	3	896	c.809C>T	c.(808-810)TCC>TTC	p.S270F	GIMAP1_uc003whp.2_Missense_Mutation_p.S278F	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	270	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCTGAAGTCCCCCAGGAGC	0.741		NA											5	4					0	0	0	0
ZNF596	169270	broad.mit.edu	37	8	195664	195664	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:195664C>A	uc003wot.2	+	6	1105	c.817C>A	c.(817-819)CAC>AAC	p.H273N	ZNF596_uc003wou.2_Missense_Mutation_p.H172N|ZNF596_uc003wov.2_Missense_Mutation_p.H273N|ZNF596_uc003wow.2_Missense_Mutation_p.H273N	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	273	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGAGATGATTCACACTAGAGA	0.408		NA											8	59					0.000274275	0.000291261	1	0
CSMD1	64478	broad.mit.edu	37	8	2886928	2886928	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:2886928G>T	uc011kwk.1	-	51	8161	c.7771C>A	c.(7771-7773)CCT>ACT	p.P2591T	CSMD1_uc011kwj.1_Missense_Mutation_p.P1920T|CSMD1_uc010lrg.2_Missense_Mutation_p.P659T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2591	Extracellular (Potential).|Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAGTAACCAGGACTGCAGCTC	0.532		NA											6	12					0.00198382	0.00208766	1	0
RP1	6101	broad.mit.edu	37	8	55542523	55542523	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:55542523T>A	uc003xsd.1	+	4	6229	c.6081T>A	c.(6079-6081)GAT>GAA	p.D2027E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	2027					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCAACCAGATTTGAAGGAAA	0.338		NA											26	119					0	0	0	0
XKR4	114786	broad.mit.edu	37	8	56436490	56436490	+	Missense_Mutation	SNP	C	C	T	rs145363139		TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:56436490C>T	uc003xsf.2	+	3	1689	c.1657C>T	c.(1657-1659)CGC>TGC	p.R553C		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	553						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTCCAACAACCGCAGTGTTGT	0.587		NA											30	73					0	0	0	0
TGS1	96764	broad.mit.edu	37	8	56717593	56717593	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:56717593G>C	uc003xsj.3	+	10	2528	c.2141G>C	c.(2140-2142)AGA>ACA	p.R714T	TGS1_uc010lyh.2_Missense_Mutation_p.R618T	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	714	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ACAGGAATGAGAGGTAATTAG	0.378		NA											15	73					0	0	0	0
ASPH	444	broad.mit.edu	37	8	62555450	62555450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:62555450G>A	uc003xuj.2	-	10	1056	c.787C>T	c.(787-789)CAA>TAA	p.Q263*	ASPH_uc011leg.1_Nonsense_Mutation_p.Q234*|ASPH_uc003xuo.2_Nonsense_Mutation_p.Q244*|ASPH_uc011leh.1_Nonsense_Mutation_p.Q230*|ASPH_uc003xul.2_Nonsense_Mutation_p.Q249*|ASPH_uc011lei.1_Nonsense_Mutation_p.Q249*|ASPH_uc011lej.1_Nonsense_Mutation_p.Q206*|ASPH_uc003xun.2_Nonsense_Mutation_p.Q220*|ASPH_uc011lek.1_Nonsense_Mutation_p.Q244*|ASPH_uc003xum.2_Nonsense_Mutation_p.Q263*	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	263	Glu-rich.|Lumenal (Potential).				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGCAAACCTTGTTCCTCATAG	0.164		NA											7	6					0	0	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528763	65528763	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:65528763C>T	uc003xvj.2	-	3	539	c.335G>A	c.(334-336)CGA>CAA	p.R112Q		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	112					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGAAAATACTCGAAAGCTTAA	0.313		NA											3	36					0	0	0	0
ENY2	56943	broad.mit.edu	37	8	110355642	110355642	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:110355642C>T	uc003ynd.2	+	5	300	c.238C>T	c.(238-240)CCT>TCT	p.P80S	ENY2_uc003ync.2_Missense_Mutation_p.P75S	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog	80					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity				0	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			AGCCCTGGTACCTGACAGTGT	0.343		NA											49	53					0	0	0	0
COL14A1	7373	broad.mit.edu	37	8	121222116	121222116	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:121222116G>A	uc003yox.2	+	12	1708	c.1443G>A	c.(1441-1443)GAG>GAA	p.E481E	COL14A1_uc003yoy.2_Silent_p.E159E|COL14A1_uc010mde.1_Silent_p.E159E	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	481	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTCTAACAGAGGGCCTGGCTG	0.408		NA											18	49					0	0	0	0
COL14A1	7373	broad.mit.edu	37	8	121292244	121292244	+	Silent	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:121292244C>T	uc003yox.2	+	29	3817	c.3552C>T	c.(3550-3552)CCC>CCT	p.P1184P	COL14A1_uc003yoz.2_Silent_p.P149P	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1184	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCAGTAAGCCCAGCGCACGCC	0.443		NA											5	62					0	0	0	0
FBXO32	114907	broad.mit.edu	37	8	124526525	124526525	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:124526525C>T	uc003yqr.2	-	5	613	c.421G>A	c.(421-423)GCC>ACC	p.A141T	FBXO32_uc003yqq.2_5'UTR|FBXO32_uc010mdk.2_Intron	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	141										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCTTTTGGGCGATGCCACTC	0.448		NA											4	31					0	0	0	0
FAM135B	51059	broad.mit.edu	37	8	139263195	139263195	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:139263195G>A	uc003yuy.2	-	6	602	c.431C>T	c.(430-432)CCC>CTC	p.P144L	FAM135B_uc003yux.2_Missense_Mutation_p.P45L|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	144										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCATTCCGGGGGTGGAAGTG	0.597		NA								HNSCC(54;0.14)			12	134					0	0	0	0
EPPK1	83481	broad.mit.edu	37	8	144946383	144946383	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:144946383G>A	uc003zaa.1	-	1	1052	c.1039C>T	c.(1039-1041)CTG>TTG	p.L347L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	347	Plectin 7.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCTGACCAGGCCCGCCCTG	0.682		NA											24	15					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144991527	144991527	+	Silent	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:144991527C>G	uc003zaf.1	-	32	13043	c.12873G>C	c.(12871-12873)GTG>GTC	p.V4291V	PLEC_uc003zab.1_Silent_p.V4154V|PLEC_uc003zac.1_Silent_p.V4158V|PLEC_uc003zad.2_Silent_p.V4154V|PLEC_uc003zae.1_Silent_p.V4122V|PLEC_uc003zag.1_Silent_p.V4132V|PLEC_uc003zah.2_Silent_p.V4140V|PLEC_uc003zaj.2_Silent_p.V4181V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4291	Binding to intermediate filaments (By similarity).|Globular 2.|Plectin 27.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGGCCTCGTACACTGACATCT	0.622		NA											6	72					0	0	0	0
SPATC1	375686	broad.mit.edu	37	8	145096194	145096194	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:145096194G>A	uc011lkw.1	+	4	1470	c.1368G>A	c.(1366-1368)AGG>AGA	p.R456R	SPATC1_uc011lkx.1_Intron	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	456										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACCGCAGGATCCTGTCCA	0.622		NA											7	30					0	0	0	0
NFKBIL2	4796	broad.mit.edu	37	8	145662239	145662239	+	Silent	SNP	T	T	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:145662239T>C	uc011llg.1	-	15	1806	c.1791A>G	c.(1789-1791)GAA>GAG	p.E597E	uc011llh.1_RNA	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	597	ANK 3.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGGTGATGCCTTCGCAGCCCT	0.657		NA											46	54					0	0	0	0
ZNF251	90987	broad.mit.edu	37	8	145948557	145948557	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr8:145948557C>G	uc003zdv.3	-	5	744	c.488G>C	c.(487-489)AGA>ACA	p.R163T		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGTTAAAACTCTCTTGTGAAT	0.478		NA											26	87					0	0	0	0
BNC2	54796	broad.mit.edu	37	9	16419593	16419593	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:16419593G>A	uc003zml.2	-	7	2834	c.2694C>T	c.(2692-2694)GAC>GAT	p.D898D	BNC2_uc011lmw.1_Silent_p.D803D|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.D685D	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		CCAGGCCCATGTCATCGAGTT	0.542		NA											42	14					0	0	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786060	19786060	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:19786060G>A	uc003zoa.1	-	1	867	c.805C>T	c.(805-807)CTC>TTC	p.L269F	SLC24A2_uc003zob.1_Missense_Mutation_p.L269F	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	269	Helical; (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GCTGTTAAGAGAAGCAAGCTT	0.393		NA											14	39					0	0	0	0
IFT74	80173	broad.mit.edu	37	9	27056421	27056421	+	Silent	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:27056421A>G	uc010mja.2	+	18	1714	c.1587A>G	c.(1585-1587)CTA>CTG	p.L529L	IFT74_uc010mjb.2_Silent_p.L529L|IFT74_uc003zqg.3_Silent_p.L529L	NM_001099223	NP_001092693	Q96LB3	IFT74_HUMAN	coiled-coil domain containing 2 isoform a	529						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				skin(1)	1		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		ATGAGGCACTAAAAACACAAT	0.308		NA											21	27					0	0	0	0
NUDT2	318	broad.mit.edu	37	9	34339067	34339067	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:34339067C>G	uc003zub.2	+	4	388	c.30C>G	c.(28-30)ATC>ATG	p.I10M	NUDT2_uc003zuc.2_Missense_Mutation_p.I10M|NUDT2_uc003zud.2_Missense_Mutation_p.I10M	NM_001161	NP_001152	P50583	AP4A_HUMAN	nudix-type motif 2	10	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCTTGATCATCTTCCGAAGAT	0.428		NA											14	41					0	0	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375945	93375945	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:93375945G>A	uc004aqx.1	-	2	276	c.165C>T	c.(163-165)TGC>TGT	p.C55C		NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Di-Ras2	55					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity				0						TCTGCAATGTGCATATGCTCT	0.567		NA											73	23					0	0	0	0
ZNF462	58499	broad.mit.edu	37	9	109734354	109734354	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:109734354A>T	uc004bcz.2	+	8	6785	c.6496A>T	c.(6496-6498)AGG>TGG	p.R2166W	ZNF462_uc010mto.2_Missense_Mutation_p.R2075W|ZNF462_uc004bda.2_Missense_Mutation_p.R2074W|ZNF462_uc011lvz.1_Missense_Mutation_p.R123W|ZNF462_uc004bdb.1_Missense_Mutation_p.R74W	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2166					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						TGCCCTGGCAAGGAACAACAG	0.527		NA											48	15					0	0	0	0
MUSK	4593	broad.mit.edu	37	9	113538912	113538912	+	Missense_Mutation	SNP	A	A	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:113538912A>C	uc004bey.2	+	10	1459	c.1361A>C	c.(1360-1362)GAT>GCT	p.D454A	MUSK_uc004bez.1_Intron	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	454	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						TCCCCTTCAGATTATAACAAA	0.338		NA											18	56					0	0	0	0
TLR4	7099	broad.mit.edu	37	9	120475917	120475917	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:120475917C>G	uc004bjz.2	+	3	1802	c.1511C>G	c.(1510-1512)TCT>TGT	p.S504C	TLR4_uc004bka.2_Missense_Mutation_p.S464C|TLR4_uc004bkb.2_Missense_Mutation_p.S304C	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	504	LRR 16.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						CTGGACCTCTCTCAGTGTCAA	0.438		NA											10	51					0	0	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022757	131022757	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:131022757C>G	uc011maw.1	-	17	1677	c.1664G>C	c.(1663-1665)GGA>GCA	p.G555A	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_Missense_Mutation_p.G28A|uc004bun.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	555	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						CTTTACAAATCCGCTCTGCAG	0.612		NA											12	57					0	0	0	0
PRRX2	51450	broad.mit.edu	37	9	132481518	132481518	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr9:132481518C>T	uc004byh.2	+	2	495	c.268C>T	c.(268-270)CCC>TCC	p.P90S		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	paired related homeobox 2	90				P -> S (in Ref. 5; AAB39864).		nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		Ovarian(14;0.00556)				AGGTGAGTGTCCCAGCCCGGG	0.657		NA											6	3					0	0	0	0
DDX53	168400	broad.mit.edu	37	X	23018798	23018798	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:23018798G>C	uc004daj.2	+	1	712	c.624G>C	c.(622-624)TTG>TTC	p.L208F		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	208						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3						GTGATGACTTGAAAAGTGGTG	0.378		NA											15	14					0	0	0	0
CYLC1	1538	broad.mit.edu	37	X	83128670	83128670	+	Silent	SNP	G	G	A			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:83128670G>A	uc004eei.1	+	4	975	c.954G>A	c.(952-954)AAG>AAA	p.K318K	CYLC1_uc004eeh.1_Silent_p.K317K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	318	2				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						AAAATGTCAAGAAAGATGACA	0.299		NA											22	6					0	0	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106097447	106097447	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:106097447A>G	uc004emo.2	+	14	2438	c.2273A>G	c.(2272-2274)TAT>TGT	p.Y758C	MORC4_uc004emp.3_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	758						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AATATTCGCTATGAAGATATA	0.353		NA											25	6					0	0	0	0
ACSL4	2182	broad.mit.edu	37	X	108912328	108912328	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chrX:108912328G>C	uc004eoi.2	-	11	1705	c.1200C>G	c.(1198-1200)TTC>TTG	p.F400L	ACSL4_uc004eoj.2_Missense_Mutation_p.F359L|ACSL4_uc004eok.2_Missense_Mutation_p.F359L|ACSL4_uc010npp.1_Missense_Mutation_p.F400L	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	400	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	ACCCTATCTTGAACAGAGTTT	0.323		NA											14	33					0	0	0	0
CDK11B	984	broad.mit.edu	37	1	1650883	1650885	+	In_Frame_Del	DEL	TCT	TCT	-	rs147453611	by1000genomes	TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:1650883_1650885delTCT	uc001agv.1	-	6	348_350	c.237_239delAGA	c.(235-240)GAAGAT>GAT	p.E79del	CDK11B_uc001ags.1_5'Flank|CDK11B_uc001agt.1_5'Flank|CDK11B_uc001aha.1_In_Frame_Del_p.E45del|CDK11B_uc001agw.1_In_Frame_Del_p.E45del|CDK11B_uc001agy.1_In_Frame_Del_p.E79del|CDK11B_uc001agx.1_In_Frame_Del_p.E79del|CDK11B_uc001agz.1_Translation_Start_Site|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc009vkr.2_In_Frame_Del_p.E79del|CDK11A_uc009vks.2_In_Frame_Del_p.E79del|CDK11A_uc010nys.1_In_Frame_Del_p.E79del|CDK11A_uc010nyt.1_In_Frame_Del_p.E79del|CDK11A_uc010nyu.1_RNA|CDK11A_uc009vkt.1_In_Frame_Del_p.E79del|CDK11A_uc009vku.1_In_Frame_Del_p.E79del|CDK11A_uc009vkv.1_In_Frame_Del_p.E79del|CDK11A_uc001aht.1_In_Frame_Del_p.E79del|CDK11B_uc001ahu.1_In_Frame_Del_p.E79del|CDK11B_uc001ahv.1_In_Frame_Del_p.E79del|CDK11B_uc001ahw.1_In_Frame_Del_p.E79del	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	79					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			skin(1)	1						CAAAGAATCATCTTCTTCTCCTC	0.394		NA											30	286	---	---	---	---	NA	NA	NA	NA
ZNF436	80818	broad.mit.edu	37	1	23689135	23689136	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr1:23689135_23689136insCA	uc001bgt.2	-	3	1120_1121	c.739_740insTG	c.(739-741)GAGfs	p.E247fs	ZNF436_uc001bgu.2_Frame_Shift_Ins_p.E247fs	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ATAGGGTTTCTCACCACTGTGG	0.5		NA											33	53	---	---	---	---	NA	NA	NA	NA
SPTBN2	6712	broad.mit.edu	37	11	66460538	66460557	+	Frame_Shift_Del	DEL	GCTTCTTCACCTCTGCCTGG	GCTTCTTCACCTCTGCCTGG	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr11:66460538_66460557delGCTTCTTCACCTCTGCCTGG	uc001ojd.2	-	24	4941_4960	c.4869_4888delCCAGGCAGAGGTGAAGAAGC	c.(4867-4890)GCCCAGGCAGAGGTGAAGAAGCACfs	p.A1623fs		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1623_1630	Spectrin 13.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AGCACCTGGTGCTTCTTCACCTCTGCCTGGGCACTCAGCT	0.632		NA											9	53	---	---	---	---	NA	NA	NA	NA
MLL2	8085	broad.mit.edu	37	12	49445184	49445184	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr12:49445184delA	uc001rta.3	-	10	2282	c.2282delT	c.(2281-2283)CTAfs	p.L761fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	761	Pro-rich.			Missing (in Ref. 1; AAC51734).	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						CTGCGGAGATAGGTGTGGCTC	0.697		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			9	39	---	---	---	---	NA	NA	NA	NA
ZNF174	7727	broad.mit.edu	37	16	3452111	3452111	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr16:3452111delA	uc002cvc.2	+	1	922	c.107delA	c.(106-108)CAAfs	p.Q36fs	ZNF434_uc002cux.3_5'Flank|ZNF434_uc010uwx.1_5'Flank|ZNF434_uc002cuy.3_5'Flank|ZNF434_uc002cuz.2_5'Flank|ZNF434_uc010uwy.1_5'Flank|ZNF434_uc010uxa.1_5'Flank|ZNF174_uc002cva.2_Frame_Shift_Del_p.Q36fs|ZNF174_uc002cvb.2_Frame_Shift_Del_p.Q36fs	NM_003450	NP_003441	Q15697	ZN174_HUMAN	zinc finger protein 174 isoform a	36					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0						CCTCCTCTGCAAAAAAACTGC	0.502		NA											7	227	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7577062	7577062	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr17:7577062delT	uc002gim.2	-	8	1070	c.876delA	c.(874-876)AAAfs	p.K292fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.K292fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.K160fs|TP53_uc010cng.1_Frame_Shift_Del_p.K160fs|TP53_uc002gii.1_Frame_Shift_Del_p.K160fs|TP53_uc010cnh.1_Frame_Shift_Del_p.K292fs|TP53_uc010cni.1_Frame_Shift_Del_p.K292fs|TP53_uc002gij.2_Frame_Shift_Del_p.K292fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	292	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		K -> Q (in a sporadic cancer; somatic mutation).|K -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> T (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> E (in sporadic cancers; somatic mutation).|K -> I (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).	KK->RR: Abolishes polyubiquitination by MKRN1.	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.K291fs*48(8)|p.0?(7)|p.K292R(5)|p.K292T(4)|p.G293fs*13(3)|p.K292N(3)|p.?(2)|p.K292E(2)|p.K292fs*13(1)|p.T284_G293del10(1)|p.L265_K305del41(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.K292K(1)|p.K292*(1)|p.V272_K292del21(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)		GAGGCTCCCCTTTCTTGCGGA	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)			22	20	---	---	---	---	NA	NA	NA	NA
IL28A	282616	broad.mit.edu	37	19	39760455	39760455	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:39760455delA	uc002oku.1	+	5	550	c.498delA	c.(496-498)CCAfs	p.P166fs		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	interleukin 28A precursor	166					response to virus	extracellular space	cytokine activity			ovary(1)|skin(1)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGGAGGCCCCAAAAAAGGTGA	0.677		NA											15	27	---	---	---	---	NA	NA	NA	NA
FGF21	26291	broad.mit.edu	37	19	49260229	49260229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr19:49260229delG	uc002pkn.1	+	3	854	c.282delG	c.(280-282)TTGfs	p.L94fs	FUT1_uc002pkk.2_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Frame_Shift_Del_p.L94fs	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21 precursor	94					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTCAAATCTTGGGAGTCAAGA	0.577		NA											30	130	---	---	---	---	NA	NA	NA	NA
IAH1	285148	broad.mit.edu	37	2	9624665	9624666	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr2:9624665_9624666insT	uc002qzr.2	+	5	576_577	c.550_551insT	c.(550-552)ATGfs	p.M184fs	IAH1_uc002qzs.2_Frame_Shift_Ins_p.M71fs|IAH1_uc002qzt.2_Frame_Shift_Ins_p.M71fs|IAH1_uc010yiz.1_RNA	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog	184					lipid catabolic process		hydrolase activity, acting on ester bonds				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGGACCCTGATGCAGGACAGC	0.515		NA											25	34	---	---	---	---	NA	NA	NA	NA
PDZD2	23037	broad.mit.edu	37	5	32089442	32089443	+	Frame_Shift_Ins	INS	-	-	TCGT			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr5:32089442_32089443insTCGT	uc003jhl.2	+	20	6276_6277	c.5888_5889insTCGT	c.(5887-5889)CCTfs	p.P1963fs	PDZD2_uc003jhm.2_Frame_Shift_Ins_p.P1963fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1963					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						AGCAAGCCACCTCTTGCCACCT	0.604		NA											27	93	---	---	---	---	NA	NA	NA	NA
PRPH2	5961	broad.mit.edu	37	6	42666201	42666202	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CX-7086-01A-11D-2078-08	TCGA-CX-7086-10D-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dfcb7c6e-b0f4-4557-9669-4c580d1093a0	46e82d02-3ae8-46f0-9615-e8b9ca710f23	g.chr6:42666201_42666202insT	uc003osk.2	-	3	1158_1159	c.872_873insA	c.(871-873)GATfs	p.D291fs		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	291	Cytoplasmic (Potential).				cell adhesion|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGGACACACCATCCAGCGACGT	0.589		NA											10	41	---	---	---	---	NA	NA	NA	NA
