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
CCDC27	148870	broad.mit.edu	37	1	3669095	3669095	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:3669095A>G	uc001akv.2	+	1	131	c.50A>G	c.(49-51)GAT>GGT	p.D17G		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	17										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CTGAAGAGAGATCCACGGGAA	0.572		NA											13	45					0	0	0	0
NBPF1	55672	broad.mit.edu	37	1	16891305	16891305	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:16891305G>A	uc009vos.1	-	30	4286	c.3398C>T	c.(3397-3399)CCC>CTC	p.P1133L	uc001ayw.2_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	1133	NBPF 8.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAGTTACCTGGGGCATGGTGG	0.254		NA											8	521					0	0	0	0
FOXJ3	22887	broad.mit.edu	37	1	42660589	42660589	+	Silent	SNP	T	T	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:42660589T>G	uc001che.2	-	10	1218	c.906A>C	c.(904-906)TCA>TCC	p.S302S	FOXJ3_uc001chf.2_Silent_p.S302S|FOXJ3_uc001chg.2_Silent_p.S302S|FOXJ3_uc001chh.1_Silent_p.S268S	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	302					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTCAAAAACTGACTTATAAA	0.323		NA											47	100					0	0	0	0
SLC35D1	23169	broad.mit.edu	37	1	67518538	67518538	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:67518538C>T	uc001ddk.2	-	3	624	c.240G>A	c.(238-240)ATG>ATA	p.M80I	SLC35D1_uc010oph.1_Missense_Mutation_p.M1I	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-glucuronic	80	Helical; (Potential).				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)	CTGTGGCCACCATCTGTAAAC	0.433		NA											25	68					0	0	0	0
COL24A1	255631	broad.mit.edu	37	1	86200620	86200620	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:86200620T>C	uc001dlj.2	-	59	4852	c.4810A>G	c.(4810-4812)ATG>GTG	p.M1604V	COL24A1_uc001dli.2_Missense_Mutation_p.M719V|COL24A1_uc010osd.1_Missense_Mutation_p.M904V|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1604	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGGAAGTTCATCTGGACTTTC	0.433		NA											16	38					0	0	0	0
MTF2	22823	broad.mit.edu	37	1	93602558	93602558	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:93602558G>C	uc009wdj.2	+	15	2048	c.1756G>C	c.(1756-1758)GAA>CAA	p.E586Q	MTF2_uc010oth.1_Missense_Mutation_p.E484Q|MTF2_uc009wdk.2_Missense_Mutation_p.E529Q|MTF2_uc001dpi.3_Missense_Mutation_p.E313Q|MTF2_uc010oti.1_Missense_Mutation_p.E484Q|MTF2_uc001dpj.3_Missense_Mutation_p.E484Q|MTF2_uc001dpl.3_Missense_Mutation_p.E484Q|MTF2_uc001dpm.3_Missense_Mutation_p.E255Q	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	586						nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GTATCTTGTGGAATGGGAAGG	0.458		NA											18	35					0	0	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460045	113460045	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:113460045C>T	uc001ecx.2	-	4	1815	c.983G>A	c.(982-984)CGA>CAA	p.R328Q	SLC16A1_uc001ecy.2_Missense_Mutation_p.R328Q|SLC16A1_uc001ecz.2_Missense_Mutation_p.R328Q	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	328	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	ATACTGAATTCGAGGTCTTAT	0.453		NA											8	24					0	0	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151206795	151206795	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:151206795G>A	uc001exj.2	+	8	1214	c.762G>A	c.(760-762)ATG>ATA	p.M254I	PIP5K1A_uc001exi.2_Missense_Mutation_p.M241I|PIP5K1A_uc010pcu.1_Missense_Mutation_p.M242I|PIP5K1A_uc001exk.2_Missense_Mutation_p.M241I|PIP5K1A_uc010pcv.1_Missense_Mutation_p.M11I	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	254	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGGTAAAAATGCATATCAAAT	0.443		NA											17	50					0	0	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153318647	153318647	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:153318647T>C	uc001fbo.2	-	3	135	c.70A>G	c.(70-72)ACA>GCA	p.T24A	PGLYRP4_uc001fbp.2_Missense_Mutation_p.T24A	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein-I-beta	24					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)|skin(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTAGCTTGTGTTTTGTTCCAG	0.463		NA											100	73					0	0	0	0
C1orf104	284618	broad.mit.edu	37	1	155290743	155290743	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:155290743C>T	uc001fki.2	-	2	814	c.537G>A	c.(535-537)CCG>CCA	p.P179P	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'UTR|RUSC1_uc001fkk.2_5'UTR|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	hypothetical protein LOC284618	179											0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GTGGGAGCCGCGGACAAGCCC	0.731		NA											11	16					0	0	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518311	161518311	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:161518311G>T	uc001gat.3	-	4	356	c.219C>A	c.(217-219)AGC>AGA	p.S73R	FCGR3A_uc001gar.2_Missense_Mutation_p.S109R|FCGR3A_uc001gas.2_Missense_Mutation_p.S108R|FCGR3A_uc009wuh.2_Missense_Mutation_p.S72R|FCGR3A_uc009wui.2_Missense_Mutation_p.S73R	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor	73	Ig-like C2-type 1.|Extracellular (Potential).				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAATGAAGTAGCTCGAGGCCT	0.552		NA											62	249					3.57e-26	1.23e-25	1	0
ATF6	22926	broad.mit.edu	37	1	161736177	161736177	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:161736177C>A	uc001gbr.2	+	1	94	c.27C>A	c.(25-27)GGC>GGA	p.G9G	ATF6_uc001gbq.1_Silent_p.G9G	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	9	Cytoplasmic (Potential).|Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GGGTTGCCGGCACCATGGAGT	0.582		NA											11	52					3.07e-06	9.09e-06	1	0
NME7	29922	broad.mit.edu	37	1	169138773	169138773	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:169138773C>A	uc001gfu.2	-	11	1248	c.1010G>T	c.(1009-1011)CGC>CTC	p.R337L	NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.R301L	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN	nucleoside diphosphate kinase 7 isoform a	337					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)	1	all_hematologic(923;0.208)					AGTTCCAGGGCGTAAATGCCG	0.363		NA											44	164					8e-19	2.69e-18	1	0
RC3H1	149041	broad.mit.edu	37	1	173952661	173952661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:173952661C>A	uc001gju.3	-	3	574	c.487G>T	c.(487-489)GAA>TAA	p.E163*	RC3H1_uc010pms.1_Nonsense_Mutation_p.E163*|RC3H1_uc001gjv.2_Nonsense_Mutation_p.E163*|RC3H1_uc010pmt.1_Nonsense_Mutation_p.E163*	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	163					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						ACTGTTCGTTCACCTAAAGAT	0.512		NA											35	40					2.42e-17	8.04e-17	1	0
CR1	1378	broad.mit.edu	37	1	207751508	207751508	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:207751508C>A	uc001hfy.2	+	21	3686	c.3546C>A	c.(3544-3546)GCC>GCA	p.A1182A	CR1_uc009xcl.1_Silent_p.A732A|CR1_uc001hfx.2_Silent_p.A1632A	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1182	Extracellular (Potential).|Sushi 18.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						AGTGCCAGGCCCTGAACAAAT	0.512		NA											31	79					4.92e-23	1.68e-22	1	0
PROX1	5629	broad.mit.edu	37	1	214184944	214184944	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:214184944C>G	uc001hkh.2	+	4	2186	c.1914C>G	c.(1912-1914)TAC>TAG	p.Y638*		NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	638	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TGGAGAAGTACGCACGTCAAG	0.423		NA											44	23					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237540685	237540685	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:237540685C>G	uc001hyl.1	+	8	646	c.526C>G	c.(526-528)CGA>GGA	p.R176G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	176	Cytoplasmic (By similarity).|MIR 2.		R -> Q (in ARVD2 and CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAAAAAGTACGAGTTGGAGA	0.443		NA											4	24					0	0	0	0
TFB2M	64216	broad.mit.edu	37	1	246729395	246729395	+	Missense_Mutation	SNP	C	C	A	rs143392079	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:246729395C>A	uc001ibn.2	-	1	171	c.46G>T	c.(46-48)GCC>TCC	p.A16S	CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	16					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			CCCGCCAAGGCGGAGAGCCTC	0.602		NA											21	22					1.55e-18	5.21e-18	1	0
GATA3	2625	broad.mit.edu	37	10	8100734	8100734	+	Silent	SNP	C	C	A	rs143582578		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:8100734C>A	uc001ika.2	+	3	1265	c.708C>A	c.(706-708)CCC>CCA	p.P236P	GATA3_uc001ijz.2_Silent_p.P236P	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	236					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						TCTTCCCCCCCAGCAGCCTGC	0.682		NA	F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						18	25					1.02e-10	3.24e-10	1	0
CUBN	8029	broad.mit.edu	37	10	17142173	17142173	+	Silent	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:17142173A>C	uc001ioo.2	-	14	1648	c.1596T>G	c.(1594-1596)CTT>CTG	p.L532L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	532	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATAAACCTGAAGAAACTCGT	0.413		NA											16	34					0	0	0	0
A1CF	29974	broad.mit.edu	37	10	52575977	52575977	+	Silent	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:52575977A>T	uc001jjj.2	-	9	1118	c.930T>A	c.(928-930)GTT>GTA	p.V310V	A1CF_uc010qhn.1_Silent_p.V318V|A1CF_uc001jji.2_Silent_p.V310V|A1CF_uc001jjh.2_Silent_p.V318V|A1CF_uc010qho.1_Silent_p.V318V|A1CF_uc009xov.2_Silent_p.V310V	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	310					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1						GGGTATACCTAACATAACTGT	0.493		NA											18	50					0	0	0	0
TET1	80312	broad.mit.edu	37	10	70406098	70406098	+	Silent	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:70406098T>C	uc001jok.3	+	4	4117	c.3612T>C	c.(3610-3612)CAT>CAC	p.H1204H		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1204					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TTTGTCCACATGATTTTCCTA	0.388		NA											17	45					0	0	0	0
ANXA7	310	broad.mit.edu	37	10	75158106	75158106	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:75158106T>C	uc001jtz.2	-	3	165	c.92A>G	c.(91-93)CAG>CGG	p.Q31R	ANXA7_uc001jua.2_Missense_Mutation_p.Q31R|ANXA7_uc001jub.2_5'UTR|ANXA7_uc010qki.1_5'UTR|ANXA7_uc009xre.2_Intron|ANXA7_uc009xrf.1_Missense_Mutation_p.Q31R	NM_004034	NP_004025	P20073	ANXA7_HUMAN	annexin VII isoform 2	31	Repeat-rich region.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					ATAAGGATACTGACCAGAAGG	0.468		NA											11	19					0	0	0	0
PANK1	53354	broad.mit.edu	37	10	91353635	91353635	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:91353635C>A	uc001kgp.1	-	4	1578	c.1422G>T	c.(1420-1422)CTG>CTT	p.L474L	PANK1_uc001kgn.1_Silent_p.L249L|PANK1_uc001kgo.1_Intron|PANK1_uc009xtu.1_Silent_p.L276L|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	474					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	TGTCCTTCACCAGTTTATCAA	0.448		NA											6	135					0.00116845	0.0032266	1	0
NSMCE4A	54780	broad.mit.edu	37	10	123719881	123719881	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:123719881G>A	uc001lfs.2	-	8	1010	c.980C>T	c.(979-981)CCA>CTA	p.P327L	NSMCE4A_uc009xzv.2_Missense_Mutation_p.P327L|NSMCE4A_uc001lft.2_Missense_Mutation_p.P168L|NSMCE4A_uc010qtu.1_Missense_Mutation_p.P168L	NM_017615	NP_060085	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A	327											0		all_neural(114;0.138)|Glioma(114;0.222)				ACCTATTACTGGCAGTCGGTC	0.289		NA											9	25					0	0	0	0
ANO5	203859	broad.mit.edu	37	11	22296276	22296276	+	Silent	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:22296276A>T	uc001mqi.2	+	20	2714	c.2397A>T	c.(2395-2397)CGA>CGT	p.R799R	ANO5_uc001mqj.2_Silent_p.R798R	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	799	Extracellular (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						CGGAAAAACGAGACTTCATCA	0.373		NA											14	28					0	0	0	0
AMBRA1	55626	broad.mit.edu	37	11	46439569	46439569	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:46439569C>A	uc010rgu.1	-	15	3370	c.3010G>T	c.(3010-3012)GAC>TAC	p.D1004Y	AMBRA1_uc010rgt.1_Missense_Mutation_p.D570Y|AMBRA1_uc009ylc.1_Missense_Mutation_p.D975Y|AMBRA1_uc001ncu.1_Missense_Mutation_p.D914Y|AMBRA1_uc001ncv.2_Missense_Mutation_p.D1007Y|AMBRA1_uc001ncw.2_Missense_Mutation_p.D885Y|AMBRA1_uc001ncx.2_Missense_Mutation_p.D944Y	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1004					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTCCGCTGGTCGGCAGGCATG	0.488		NA											21	44					3.6e-14	1.18e-13	1	0
C11orf30	56946	broad.mit.edu	37	11	76253279	76253279	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:76253279C>T	uc001oxl.2	+	18	2720	c.2577C>T	c.(2575-2577)CCC>CCT	p.P859P	C11orf30_uc001oxm.2_Silent_p.P761P|C11orf30_uc010rsb.1_Silent_p.P874P|C11orf30_uc010rsc.1_Silent_p.P860P|C11orf30_uc001oxn.2_Silent_p.P860P|C11orf30_uc010rsd.1_Silent_p.P768P|C11orf30_uc001oxo.1_Silent_p.P213P|C11orf30_uc010rse.1_Silent_p.P106P|C11orf30_uc001oxp.2_5'UTR	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	859					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						GCTCCCAGCCCCAACAGCCTT	0.517		NA											92	85					0	0	0	0
GRM5	2915	broad.mit.edu	37	11	88386529	88386529	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:88386529C>A	uc001pcq.2	-	3	1154	c.954G>T	c.(952-954)CAG>CAT	p.Q318H	GRM5_uc009yvm.2_Missense_Mutation_p.Q318H	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	318	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CAGCTTCTCGCTGATATCCAT	0.453		NA											17	79					1.68e-08	5.2e-08	1	0
MTMR2	8898	broad.mit.edu	37	11	95580901	95580901	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:95580901T>C	uc001pfu.2	-	10	1409	c.1156A>G	c.(1156-1158)ACT>GCT	p.T386A	MTMR2_uc001pfv.2_Missense_Mutation_p.T314A|MTMR2_uc001pfs.2_Missense_Mutation_p.T314A|MTMR2_uc001pft.2_Missense_Mutation_p.T314A|MTMR2_uc010ruj.1_Missense_Mutation_p.T369A	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	386	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCCAATGAGTAGATTCCAAG	0.358		NA											22	65					0	0	0	0
SIDT2	51092	broad.mit.edu	37	11	117052527	117052527	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:117052527C>G	uc001pqh.1	+	3	351	c.310C>G	c.(310-312)CAG>GAG	p.Q104E	SIDT2_uc010rxe.1_Missense_Mutation_p.Q104E|SIDT2_uc001pqg.2_Missense_Mutation_p.Q104E|SIDT2_uc001pqi.1_Missense_Mutation_p.Q104E	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	104	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCATAGGTTTCAGCGCAAGTA	0.592		NA									OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	46					0	0	0	0
SORL1	6653	broad.mit.edu	37	11	121454271	121454271	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:121454271G>T	uc001pxx.2	+	26	3765	c.3685G>T	c.(3685-3687)GAT>TAT	p.D1229Y	SORL1_uc010rzp.1_Missense_Mutation_p.D75Y	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1229	Extracellular (Potential).|LDL-receptor class A 4.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGATGGTTCCGATGAGGATCC	0.597		NA											27	28					6.13e-19	2.07e-18	1	0
IQSEC3	440073	broad.mit.edu	37	12	266231	266231	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:266231G>A	uc001qhw.1	+	3	1291	c.1285G>A	c.(1285-1287)GAC>AAC	p.D429N	IQSEC3_uc001qhu.1_Missense_Mutation_p.D429N	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	732	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CATGGAGCTGGACGAGGCCCT	0.637		NA											6	11					0	0	0	0
C1S	716	broad.mit.edu	37	12	7175808	7175808	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:7175808G>A	uc001qsj.2	+	14	1963	c.1244G>A	c.(1243-1245)GGC>GAC	p.G415D	C1S_uc001qsk.2_Missense_Mutation_p.G415D|C1S_uc001qsl.2_Missense_Mutation_p.G415D|C1S_uc009zfr.2_Missense_Mutation_p.G248D|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	415	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAGGTGCTGGGCCCGGAGCTG	0.547		NA											74	76					0	0	0	0
SLC2A3	6515	broad.mit.edu	37	12	8083916	8083916	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:8083916G>A	uc001qtr.2	-	4	697	c.435C>T	c.(433-435)ATC>ATT	p.I145I	SLC2A3_uc001qts.2_Silent_p.I145I	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	145	Helical; Name=4; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		CAGTAGGCGAGATCTCTCCAA	0.517		NA											38	47					0	0	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21377659	21377659	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:21377659G>A	uc001req.3	+	14	1855	c.1751G>A	c.(1750-1752)GGA>GAA	p.G584E		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	584	Helical; Name=11; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.G584G(1)		ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATTACAGGAGGAATTCTAGCT	0.353		NA											44	64					0	0	0	0
HDAC7	51564	broad.mit.edu	37	12	48191248	48191248	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:48191248G>A	uc009zkv.1	-	4	594	c.379C>T	c.(379-381)CGC>TGC	p.R127C	HDAC7_uc010slo.1_Missense_Mutation_p.R166C|HDAC7_uc001rqj.3_Missense_Mutation_p.R166C|HDAC7_uc001rqk.3_Missense_Mutation_p.R149C			Q8WUI4	HDAC7_HUMAN	Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system.	127	Interaction with MEF2A (By similarity).|Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		AGCATGGAGCGGGTGGCTCCT	0.622		NA											24	50					0	0	0	0
AQP6	363	broad.mit.edu	37	12	50368216	50368216	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:50368216C>T	uc001rvr.1	+	2	849	c.512C>T	c.(511-513)TCC>TTC	p.S171F	AQP6_uc001rvp.1_5'UTR|AQP6_uc001rvq.1_RNA	NM_001652	NP_001643	Q13520	AQP6_HUMAN	aquaporin 6	171	Helical; (Potential).				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity				0						ACATCAGGCTCCCCGGCCACC	0.627		NA									OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	36					0	0	0	0
STAT2	6773	broad.mit.edu	37	12	56740685	56740685	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:56740685G>A	uc001slc.2	-	20	1857	c.1779C>T	c.(1777-1779)ACC>ACT	p.T593T	STAT2_uc001slb.2_Silent_p.T135T|STAT2_uc001sld.2_Silent_p.T589T	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	593	SH2.				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TGCCAGACATGGTCTTCTTCA	0.602		NA											50	57					0	0	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57868454	57868454	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:57868454C>A	uc001sod.2	-	17	2147	c.1954G>T	c.(1954-1956)GGG>TGG	p.G652W	ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Missense_Mutation_p.G378W|ARHGAP9_uc001soa.2_Missense_Mutation_p.G251W|ARHGAP9_uc001sob.2_Missense_Mutation_p.G562W|ARHGAP9_uc001soc.2_Missense_Mutation_p.G562W|ARHGAP9_uc001soe.1_Missense_Mutation_p.G641W	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	581	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			GCCAAGTTCCCGCTCACCCGA	0.507		NA											5	109					0.00116845	0.0032266	1	0
PPP1R12A	4659	broad.mit.edu	37	12	80211242	80211242	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:80211242C>T	uc001syz.2	-	9	1438	c.1171G>A	c.(1171-1173)GCT>ACT	p.A391T	PPP1R12A_uc010suc.1_Missense_Mutation_p.A304T|PPP1R12A_uc001sza.2_Missense_Mutation_p.A391T|PPP1R12A_uc010sud.1_Missense_Mutation_p.A391T|PPP1R12A_uc001szb.2_Missense_Mutation_p.A391T|PPP1R12A_uc001szc.2_Missense_Mutation_p.A391T	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	391						contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						GCTACAGGAGCTGCTTGTGTA	0.358		NA											6	21					0	0	0	0
WSCD2	9671	broad.mit.edu	37	12	108589613	108589613	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:108589613G>T	uc001tms.2	+	2	748	c.4G>T	c.(4-6)GCC>TCC	p.A2S	WSCD2_uc001tmt.2_Missense_Mutation_p.A2S	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	2						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						TCCCACTATGGCCAAGCTCTG	0.562		NA											13	40					0.00136819	0.00376911	1	0
DYNLL1	8655	broad.mit.edu	37	12	120934324	120934324	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:120934324A>G	uc001tyj.2	+	2	354	c.100A>G	c.(100-102)ATA>GTA	p.I34V	uc001tyk.1_5'Flank|DYNLL1_uc001tyl.2_Missense_Mutation_p.I34V|DYNLL1_uc001tym.2_Missense_Mutation_p.I34V	NM_001037494	NP_001032583	P63167	DYL1_HUMAN	dynein light chain 1	34					actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAATACAACATAGAGAAGGA	0.577		NA											20	85					0	0	0	0
KPNA3	3839	broad.mit.edu	37	13	50293956	50293956	+	Splice_Site	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr13:50293956C>G	uc001vdj.2	-	10	1142	c.727_splice	c.e10-1	p.I243_splice		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3						interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTGGCAAAATCTGAGGAAAGA	0.333		NA											17	4					0	0	0	0
MYO16	23026	broad.mit.edu	37	13	109496738	109496738	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr13:109496738A>C	uc001vqt.1	+	10	1205	c.1079A>C	c.(1078-1080)AAA>ACA	p.K360T	MYO16_uc010agk.1_Missense_Mutation_p.K382T|MYO16_uc001vqu.1_Missense_Mutation_p.K160T	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	360					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)			TTGTTGGAAAAAGACATTATG	0.413		NA											9	27					0	0	0	0
GABRB3	2562	broad.mit.edu	37	15	26812872	26812872	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:26812872G>T	uc001zaz.2	-	7	833	c.691C>A	c.(691-693)CCT>ACT	p.P231T	GABRB3_uc010uae.1_Missense_Mutation_p.P146T|GABRB3_uc001zba.2_Missense_Mutation_p.P231T|GABRB3_uc001zbb.2_Missense_Mutation_p.P287T	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	231	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GACAGTCGAGGATAGGCACCT	0.433		NA											12	22					3.27e-08	1.01e-07	1	0
CHP	11261	broad.mit.edu	37	15	41549177	41549177	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:41549177C>T	uc001znl.2	+	3	354	c.210C>T	c.(208-210)TTC>TTT	p.F70F		NM_007236	NP_009167	Q99653	CHP1_HUMAN	calcium binding protein P22	70	EF-hand 2.				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;5.87e-16)|Lung NSC(122;8.86e-12)|all_lung(180;2.47e-10)|Melanoma(134;0.0574)|Colorectal(260;0.0946)|Ovarian(310;0.143)		GBM - Glioblastoma multiforme(113;1.68e-06)|LUSC - Lung squamous cell carcinoma(244;0.008)|Lung(196;0.00802)|BRCA - Breast invasive adenocarcinoma(123;0.169)		TCAATGCCTTCTTTCCAGAGG	0.458		NA											16	39					0	0	0	0
VPS39	23339	broad.mit.edu	37	15	42465981	42465981	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:42465981T>G	uc001zpd.2	-	12	1214	c.1063A>C	c.(1063-1065)AAC>CAC	p.N355H	VPS39_uc001zpc.2_Missense_Mutation_p.N344H	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	355					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)|skin(1)	3		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CAGAAGAGGTTGAAGGCATAC	0.403		NA											46	41					0	0	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081052	53081052	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:53081052G>A	uc002aci.1	-	1	1158	c.1030C>T	c.(1030-1032)CGG>TGG	p.R344W		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	344	CUT.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		AAGGTCTCCCGGCCGGATTTG	0.672		NA											21	43					0	0	0	0
MYO1E	4643	broad.mit.edu	37	15	59445837	59445837	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:59445837G>A	uc002aga.2	-	26	3404	c.3032C>T	c.(3031-3033)ACG>ATG	p.T1011M		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	1011					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)		GCTCTCTGGCGTCTGTGACAC	0.582		NA											29	68					0	0	0	0
HERC1	8925	broad.mit.edu	37	15	63950807	63950807	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:63950807C>T	uc002amp.2	-	48	9683	c.9535G>A	c.(9535-9537)GCT>ACT	p.A3179T		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3179					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TGAGCAGCAGCAGTCACTCTC	0.493		NA											13	36					0	0	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459366	92459366	+	Silent	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:92459366G>T	uc002bqx.2	+	2	525	c.324G>T	c.(322-324)CTG>CTT	p.L108L	SLCO3A1_uc002bqy.2_Silent_p.L108L|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.L50L	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	108	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCCGCGCCTGATCGGCTGCG	0.682		NA											9	15					7.48e-07	2.24e-06	1	0
ABCA3	21	broad.mit.edu	37	16	2339465	2339465	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:2339465C>T	uc002cpy.1	-	20	3382	c.2670G>A	c.(2668-2670)GAG>GAA	p.E890E	ABCA3_uc010bsk.1_Silent_p.E832E|ABCA3_uc010bsl.1_Silent_p.E890E	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	890					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				CGGTGCGCTCCTCCTCGATGA	0.677		NA											10	4					0	0	0	0
CREBBP	1387	broad.mit.edu	37	16	3900396	3900396	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:3900396C>G	uc002cvv.2	-	2	904	c.700G>C	c.(700-702)GCC>CCC	p.A234P	CREBBP_uc002cvw.2_Missense_Mutation_p.A234P	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	234	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGCTCGAGGCGCCCTGCATG	0.622		NA	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				3	62					0	0	0	0
PALB2	79728	broad.mit.edu	37	16	23646937	23646937	+	Silent	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:23646937A>G	uc002dlx.1	-	4	1130	c.930T>C	c.(928-930)AGT>AGC	p.S310S		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	310	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		GGCCACTTTTACTTATAGCTT	0.343		NA	F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				43	88					0	0	0	0
SLC6A2	6530	broad.mit.edu	37	16	55730222	55730222	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:55730222G>A	uc002eif.2	+	9	1344	c.1233G>A	c.(1231-1233)ATG>ATA	p.M411I	SLC6A2_uc010ccd.2_Missense_Mutation_p.M411I|SLC6A2_uc002eig.2_Missense_Mutation_p.M411I|SLC6A2_uc002eih.2_Missense_Mutation_p.M411I|SLC6A2_uc002eii.2_Missense_Mutation_p.M306I|SLC6A2_uc002eij.2_Missense_Mutation_p.M125I	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	411	Helical; Name=8; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTTTCGTCATGCTCCTGGCGC	0.542		NA											27	92					0	0	0	0
CDH11	1009	broad.mit.edu	37	16	65016141	65016141	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:65016141C>G	uc002eoi.2	-	8	1497	c.1063G>C	c.(1063-1065)GAC>CAC	p.D355H	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.D355H|CDH11_uc010vin.1_Missense_Mutation_p.D229H|CDH11_uc002eok.1_RNA	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	355	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AACTTCGGGTCGATGTGCACG	0.468		NA	T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			18	78					0	0	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77327096	77327096	+	Silent	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:77327096G>C	uc002ffc.3	-	20	3485	c.3066C>G	c.(3064-3066)GCC>GCG	p.A1022A	ADAMTS18_uc010chc.1_Silent_p.A610A	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1022	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GGGTTTCTGCGGCAGAGCCCT	0.557		NA											46	39					0	0	0	0
AMAC1L3	643664	broad.mit.edu	37	17	7386050	7386050	+	Silent	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:7386050T>C	uc010cmj.1	+	2	862	c.747T>C	c.(745-747)GAT>GAC	p.D249D	ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	acyl-malonyl condensing enzyme 1-like 3	249						integral to membrane					0		Prostate(122;0.173)				TGCCCAGTGATCTCCCGAGTT	0.632		NA											5	68					0	0	0	0
TMEM132E	124842	broad.mit.edu	37	17	32953598	32953598	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:32953598C>T	uc002hif.2	+	2	848	c.520C>T	c.(520-522)CGG>TGG	p.R174W		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	174	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCGGGATGCCCGGGAAGTCAA	0.716		NA											15	12					0	0	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:39274206C>T	uc002hvz.2	-	1	401	c.362G>A	c.(361-363)AGA>AAA	p.R121K		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	20.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.1		NA											5	51					0	0	0	0
ADAM11	4185	broad.mit.edu	37	17	42850673	42850673	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:42850673G>A	uc002ihh.2	+	11	870	c.870G>A	c.(868-870)ATG>ATA	p.M290I	ADAM11_uc010wjd.1_Missense_Mutation_p.M90I	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	290	Extracellular (Potential).|Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				TGGTTGCCATGGAAACATGGG	0.622		NA											25	93					0	0	0	0
RAD51C	5889	broad.mit.edu	37	17	56770057	56770057	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:56770057C>G	uc002iwu.2	+	1	95	c.53C>G	c.(52-54)CCG>CGG	p.P18R	TEX14_uc002iwr.1_5'Flank|TEX14_uc002iws.1_5'Flank|TEX14_uc010dcz.1_5'Flank|TEX14_uc010dda.1_5'Flank|TEX14_uc010wnz.1_5'Flank|RAD51C_uc002iwt.1_Missense_Mutation_p.P18R|RAD51C_uc010woa.1_Missense_Mutation_p.P18R|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_Intron	NM_058216	NP_478123	O43502	RA51C_HUMAN	RAD51 homolog C isoform 1	18					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGAGTTTCCCGCTGTCTCCA	0.602		NA						Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2				20	68					0	0	0	0
MED13	9969	broad.mit.edu	37	17	60112835	60112835	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:60112835C>T	uc002izo.2	-	4	682	c.605G>A	c.(604-606)AGC>AAC	p.S202N		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	202					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						TTGAAATGGGCTATTAGACTG	0.338		NA											10	45					0	0	0	0
POLG2	11232	broad.mit.edu	37	17	62492731	62492731	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:62492731A>G	uc002jei.2	-	1	439	c.356T>C	c.(355-357)GTG>GCG	p.V119A	POLG2_uc010deg.1_Missense_Mutation_p.V119A	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	119				WWTSVVVFREQ -> MVDLGGGVHGA (in Ref. 5; AAC51321).	DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCTGAACACCACCACCGAGGT	0.602		NA											28	47					0	0	0	0
DNAI2	64446	broad.mit.edu	37	17	72278070	72278070	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:72278070C>A	uc002jkf.2	+	2	213	c.114C>A	c.(112-114)GCC>GCA	p.A38A	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	38					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						CTGAGCTGGCCGAGCAGTTCG	0.622		NA							Kartagener_syndrome				32	185					4.32e-10	1.37e-09	1	0
RECQL5	9400	broad.mit.edu	37	17	73625498	73625498	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:73625498C>T	uc010dgl.2	-	16	2161	c.2005G>A	c.(2005-2007)GCC>ACC	p.A669T	RECQL5_uc010dgk.2_Missense_Mutation_p.A642T|RECQL5_uc002jot.3_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	669					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTTCCGTGGCCGTCTGGAAC	0.657		NA						Other_identified_genes_with_known_or_suspected_DNA_repair_function					11	50					0	0	0	0
SMCHD1	23347	broad.mit.edu	37	18	2706416	2706416	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:2706416A>G	uc002klm.3	+	15	2200	c.2011A>G	c.(2011-2013)AGG>GGG	p.R671G	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	671					chromosome organization		ATP binding				0						AAAGCTGGATAGGACAGTTGC	0.333		NA											4	26					0	0	0	0
SMCHD1	23347	broad.mit.edu	37	18	2738442	2738442	+	Silent	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:2738442G>T	uc002klm.3	+	26	3513	c.3324G>T	c.(3322-3324)CTG>CTT	p.L1108L	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1108					chromosome organization		ATP binding				0						TACAGGGTCTGCTTCCTGATG	0.373		NA											34	10					8.17e-17	2.71e-16	1	0
TNFRSF11A	8792	broad.mit.edu	37	18	60025571	60025571	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:60025571C>T	uc002lin.2	+	5	556	c.518C>T	c.(517-519)ACC>ATC	p.T173I	TNFRSF11A_uc010dpv.2_Missense_Mutation_p.T173I	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	173	TNFR-Cys 4.|Extracellular (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.T173A(1)		breast(2)|lung(1)	3		Colorectal(73;0.188)				AGACCCTGGACCAAGTAAGTA	0.478		NA							Paget_Disease_of_Bone				21	52					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9008172	9008172	+	Splice_Site	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:9008172C>A	uc002mkp.2	-	41	39583	c.39379_splice	c.e41+1	p.G13127_splice	MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16						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						CAGCCACTCACCATTGACGTA	0.527		NA											57	158					1.87e-40	6.55e-40	1	0
RYR1	6261	broad.mit.edu	37	19	38979900	38979900	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:38979900G>T	uc002oit.2	+	35	5761	c.5631G>T	c.(5629-5631)GAG>GAT	p.E1877D	RYR1_uc002oiu.2_Missense_Mutation_p.E1877D	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1877	Glu-rich (acidic).|Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	aagaagaggaggaggacgagg	0.199		NA											7	20					2.01e-06	5.98e-06	1	0
EID2B	126272	broad.mit.edu	37	19	40023356	40023356	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:40023356G>A	uc002olz.1	-	1	139	c.87C>T	c.(85-87)AGC>AGT	p.S29S		NM_152361	NP_689574	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation	29					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGTACGTCGCTGACGCCAC	0.706		NA									OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	8					0	0	0	0
GRIK5	2901	broad.mit.edu	37	19	42569484	42569484	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:42569484G>A	uc002osj.1	-	2	170	c.135C>T	c.(133-135)GCC>GCT	p.A45A	GRIK5_uc010eib.1_5'UTR	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	45	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CCCGGGCCAAGGCCAAGGCCA	0.567		NA											14	34					0	0	0	0
LILRB5	10990	broad.mit.edu	37	19	54758761	54758761	+	Silent	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:54758761C>G	uc002qex.2	-	6	1203	c.1092G>C	c.(1090-1092)CCG>CCC	p.P364P	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.P355P|LILRB5_uc002qey.2_Silent_p.P364P|LILRB5_uc002qez.2_Silent_p.P264P|LILRB5_uc002qfa.1_Silent_p.P254P|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	364	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTAGACACAGCGGGGGATGGG	0.547		NA											36	21					0	0	0	0
ZNF582	147948	broad.mit.edu	37	19	56901764	56901764	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:56901764T>C	uc002qmz.1	-	3	275	c.116A>G	c.(115-117)TAC>TGC	p.Y39C	ZNF582_uc002qmy.2_Missense_Mutation_p.Y70C	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CAGGTTGCTGTAGGTCTCCAA	0.493		NA											42	74					0	0	0	0
ZNF667	63934	broad.mit.edu	37	19	56953438	56953438	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:56953438G>T	uc002qnd.2	-	5	1088	c.926C>A	c.(925-927)CCT>CAT	p.P309H	ZNF667_uc010etl.2_Missense_Mutation_p.P91H|ZNF667_uc002qne.2_Missense_Mutation_p.P309H|ZNF667_uc010etm.2_Missense_Mutation_p.P252H	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CGCATTTTCAGGGATTTTCTC	0.328		NA											26	77					6.07e-21	2.05e-20	1	0
PEG3	5178	broad.mit.edu	37	19	57335898	57335898	+	Silent	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:57335898A>T	uc002qnu.2	-	1	477	c.126T>A	c.(124-126)TCT>TCA	p.S42S	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.S42S|PEG3_uc002qnv.2_Silent_p.S42S|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.S42S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	42					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAAAAAACTCAGAGTCAGTTG	0.483		NA											17	58					0	0	0	0
AURKC	6795	broad.mit.edu	37	19	57746416	57746416	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:57746416G>T	uc002qoe.2	+	6	938	c.749G>T	c.(748-750)CGC>CTC	p.R250L	AURKC_uc002qoc.2_Missense_Mutation_p.R231L|AURKC_uc002qod.2_Missense_Mutation_p.R216L|AURKC_uc010etv.2_Missense_Mutation_p.R247L	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	250	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACTTACAGACGCATCCTCAAG	0.552		NA											11	48					4.69e-08	1.44e-07	1	0
ZNF418	147686	broad.mit.edu	37	19	58437946	58437946	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:58437946C>T	uc002qqs.1	-	4	1895	c.1603G>A	c.(1603-1605)GAA>AAA	p.E535K	ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.E450K	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	zinc finger protein 418	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TAAGGCCTTTCTCCAGTATGA	0.448		NA											15	51					0	0	0	0
COLEC11	78989	broad.mit.edu	37	2	3691061	3691061	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:3691061G>A	uc002qya.2	+	6	504	c.356G>A	c.(355-357)CGC>CAC	p.R119H	COLEC11_uc002qxz.2_Missense_Mutation_p.R116H|COLEC11_uc002qyb.2_Missense_Mutation_p.R95H|COLEC11_uc002qyc.2_Missense_Mutation_p.R95H|COLEC11_uc010ewo.2_Missense_Mutation_p.R71H|COLEC11_uc010ewp.2_Missense_Mutation_p.R93H|COLEC11_uc010ewq.2_Missense_Mutation_p.R69H|COLEC11_uc010ewr.2_Missense_Mutation_p.R69H|COLEC11_uc010ews.2_Missense_Mutation_p.R45H	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	119	Potential.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		AGCCAGCTGCGCAAGGCCATC	0.637		NA											34	56					0	0	0	0
CYP1B1	1545	broad.mit.edu	37	2	38301665	38301665	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:38301665G>A	uc002rqo.2	-	3	1270	c.867C>T	c.(865-867)CCC>CCT	p.P289P		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	289					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)	TCATGTcgcggggggcggccc	0.512		NA											19	9					0	0	0	0
DCTN1	1639	broad.mit.edu	37	2	74607154	74607154	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:74607154C>A	uc002skx.2	-	1	322	c.11G>T	c.(10-12)AGC>ATC	p.S4I	DCTN1_uc002skw.1_5'Flank|DCTN1_uc010ffd.2_Missense_Mutation_p.S4I|DCTN1_uc002sky.2_Intron	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	4					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						GTGCCTCTTGCTCTGTGCCAT	0.627		NA											24	14					3.29e-13	1.06e-12	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745732	77745732	+	Silent	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:77745732T>C	uc002snr.2	-	3	1678	c.1263A>G	c.(1261-1263)TCA>TCG	p.S421S	LRRTM4_uc002snq.2_Silent_p.S421S|LRRTM4_uc002sns.2_Silent_p.S421S|LRRTM4_uc002snt.2_Silent_p.S422S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	421	Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		TTTTGTGAAATGAAACATGCT	0.493		NA											45	83					0	0	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746588	77746588	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:77746588C>T	uc002snr.2	-	3	822	c.407G>A	c.(406-408)CGC>CAC	p.R136H	LRRTM4_uc002snq.2_Missense_Mutation_p.R136H|LRRTM4_uc002sns.2_Missense_Mutation_p.R136H|LRRTM4_uc002snt.2_Missense_Mutation_p.R137H	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	136	LRR 4.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		GTCCAGATTGCGGAGATTGGG	0.383		NA											48	43					0	0	0	0
REG1B	5968	broad.mit.edu	37	2	79313964	79313964	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:79313964C>T	uc002sny.2	-	3	269	c.157G>A	c.(157-159)GAC>AAC	p.D53N	REG1B_uc010ffv.1_Missense_Mutation_p.D53N|REG1B_uc010ffw.2_Missense_Mutation_p.D53N	NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	53	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|skin(1)	2						GTCTCAGGGTCTTCATTAAAG	0.537		NA											29	184					0	0	0	0
NPAS2	4862	broad.mit.edu	37	2	101607326	101607326	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:101607326G>A	uc002tap.1	+	19	2389	c.2103G>A	c.(2101-2103)CGG>CGA	p.R701R	NPAS2_uc010yvt.1_Silent_p.R766R|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	701					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						GGACGGGACGGCAAGTCAAGT	0.647		NA											38	12					0	0	0	0
POTEF	728378	broad.mit.edu	37	2	130872899	130872899	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:130872899G>T	uc010fmh.2	-	4	924	c.524C>A	c.(523-525)ACT>AAT	p.T175N		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	175	ANK 1.					cell cortex	ATP binding			skin(3)|ovary(2)	5						ATGTAGAGCAGTCCTATGAGA	0.418		NA											30	96					4.43e-33	1.54e-32	1	0
ZEB2	9839	broad.mit.edu	37	2	145147514	145147514	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:145147514G>C	uc002tvu.2	-	10	3629	c.3149C>G	c.(3148-3150)TCG>TGG	p.S1050W	ZEB2_uc002tvv.2_Missense_Mutation_p.S1044W|ZEB2_uc010zbm.1_Missense_Mutation_p.S1021W|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	1050						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTTCTCGCCCGAGTGAAGCCT	0.483		NA											5	60					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179532239	179532239	+	Silent	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:179532239G>C	uc010zfk.1	-	7	713	c.165C>G	c.(163-165)CCC>CCG	p.P55P	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron			Q8WZ42	TITIN_HUMAN	SubName: Full=Titin; Flags: Fragment;	11249							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)			CAACTTTCTTGGGTGGCTCAG	0.308		NA											13	13					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179664292	179664292	+	Missense_Mutation	SNP	C	C	T	rs151174349		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:179664292C>T	uc002und.2	-	6	1061	c.836G>A	c.(835-837)CGG>CAG	p.R279Q	TTN_uc010zfg.1_Missense_Mutation_p.R279Q|TTN_uc010zfh.1_Missense_Mutation_p.R279Q|TTN_uc010zfi.1_Missense_Mutation_p.R279Q|TTN_uc010zfj.1_Missense_Mutation_p.R279Q|TTN_uc002unb.2_Missense_Mutation_p.R279Q			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	279							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)			GGACTGCTGCCGAGCCAGCTG	0.592		NA											15	44					0	0	0	0
FRZB	2487	broad.mit.edu	37	2	183699618	183699618	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:183699618C>A	uc002upa.1	-	6	1154	c.936G>T	c.(934-936)CAG>CAT	p.Q312H		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	312	Ser-rich.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGCCAGACTTCTGACTCTGAG	0.413		NA											34	25					1.22e-08	3.79e-08	1	0
AOX1	316	broad.mit.edu	37	2	201460091	201460091	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:201460091G>A	uc002uvx.2	+	3	301	c.200G>A	c.(199-201)AGG>AAG	p.R67K		NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	67	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AAGAGGATAAGGTACCGTGCA	0.338		NA											18	16					0	0	0	0
ERBB4	2066	broad.mit.edu	37	2	212251600	212251600	+	Silent	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:212251600A>C	uc002veg.1	-	27	3557	c.3459T>G	c.(3457-3459)CCT>CCG	p.P1153P	ERBB4_uc002veh.1_Silent_p.P1137P|ERBB4_uc010zji.1_Silent_p.P1143P|ERBB4_uc010zjj.1_Silent_p.P1127P	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1153	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGTCTCGCATAGGAGTCATGT	0.468		NA								TSP Lung(8;0.080)			35	28					0	0	0	0
ERBB4	2066	broad.mit.edu	37	2	212543814	212543814	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:212543814C>A	uc002veg.1	-	13	1683	c.1585G>T	c.(1585-1587)GGA>TGA	p.G529*	ERBB4_uc002veh.1_Nonsense_Mutation_p.G529*|ERBB4_uc010zji.1_Nonsense_Mutation_p.G529*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.G529*|ERBB4_uc010fut.1_Nonsense_Mutation_p.G529*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	529	Extracellular (Potential).|Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGATCCTTCCTCTACTGAAG	0.498		NA								TSP Lung(8;0.080)			8	22					0.000157383	0.000452033	1	0
STK36	27148	broad.mit.edu	37	2	219553529	219553529	+	Missense_Mutation	SNP	G	G	C	rs150496187	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:219553529G>C	uc002viu.2	+	12	1756	c.1490G>C	c.(1489-1491)CGG>CCG	p.R497P	STK36_uc002viv.2_Missense_Mutation_p.R497P	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	497					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TCCTTCTGCCGGGAGGCAGGG	0.587		NA											41	31					0	0	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950335	235950336	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:235950335_235950336GG>TT	uc002vvp.2	+	4	1315_1316	c.922_923GG>TT	c.(922-924)GGT>TTT	p.G308F	SH3BP4_uc010fym.2_Missense_Mutation_p.G308F|SH3BP4_uc002vvq.2_Missense_Mutation_p.G308F	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	308					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCAAAGCCCTGGTTGGGGCCAG	0.594		NA											19	47					0	0	0	0
C20orf196	149840	broad.mit.edu	37	20	5753649	5753649	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr20:5753649G>A	uc002wmf.2	+	2	225	c.138G>A	c.(136-138)TTG>TTA	p.L46L		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	hypothetical protein LOC149840	46											0						TCAGTTCTTTGGAATTCCATT	0.443		NA											28	121					0	0	0	0
CSTL1	128817	broad.mit.edu	37	20	23420933	23420933	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr20:23420933T>C	uc002wte.2	+	2	275	c.29T>C	c.(28-30)CTG>CCG	p.L10P	CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	cystatin-like 1 precursor	10						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0993)|Lung NSC(19;0.235)					AGAAACCCCCTGCTGCTGCTG	0.552		NA											18	51					0	0	0	0
TOX2	84969	broad.mit.edu	37	20	42694723	42694723	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr20:42694723G>T	uc002xlf.3	+	6	1295	c.1278G>T	c.(1276-1278)ATG>ATT	p.M426I	TOX2_uc010ggo.2_Missense_Mutation_p.M444I|TOX2_uc002xle.3_Missense_Mutation_p.M402I|TOX2_uc010ggp.2_Missense_Mutation_p.M402I|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Missense_Mutation_p.M322I	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	426	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCTGGCGATGAGCCCCTCAC	0.632		NA											5	19					0.000602214	0.00169567	1	0
NCAM2	4685	broad.mit.edu	37	21	22838935	22838935	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr21:22838935G>T	uc002yld.1	+	13	1912	c.1663G>T	c.(1663-1665)GTT>TTT	p.V555F	NCAM2_uc011acb.1_Missense_Mutation_p.V413F	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	555	Fibronectin type-III 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGCAATGGTTGTTTTGAACAA	0.274		NA											5	10					1.02e-07	3.13e-07	1	0
KRTAP13-4	284827	broad.mit.edu	37	21	31803001	31803001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr21:31803001C>A	uc011acw.1	+	1	408	c.408C>A	c.(406-408)TAC>TAA	p.Y136*		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	136						intermediate filament					0						ACCCAAACTACTTGGCTTCTG	0.458		NA											38	26					9.86e-28	3.41e-27	1	0
DIP2A	23181	broad.mit.edu	37	21	47971570	47971570	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr21:47971570G>T	uc002zjo.2	+	24	3046	c.2863G>T	c.(2863-2865)GTG>TTG	p.V955L	DIP2A_uc011afy.1_Missense_Mutation_p.V891L|DIP2A_uc011afz.1_Missense_Mutation_p.V951L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	955					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTCAATGATCGTGGGGAACCT	0.507		NA											14	13					1.05e-09	3.31e-09	1	0
CECR2	27443	broad.mit.edu	37	22	18028225	18028225	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr22:18028225G>C	uc010gqw.1	+	16	3308	c.3182G>C	c.(3181-3183)AGA>ACA	p.R1061T	CECR2_uc010gqv.1_Missense_Mutation_p.R919T|CECR2_uc002zml.2_Missense_Mutation_p.R920T|CECR2_uc002zmo.2_RNA	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1103					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CTCTGCCCCAGAGGCAGAACG	0.602		NA											6	22					0	0	0	0
USP18	11274	broad.mit.edu	37	22	18650683	18650683	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr22:18650683G>A	uc002zny.2	+	6	845	c.507G>A	c.(505-507)ACG>ACA	p.T169T		NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN	ubiquitin specific protease 18	169					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)	1						CCCTGTATACGATCCGGGTGA	0.547		NA											35	37					0	0	0	0
SCN10A	6336	broad.mit.edu	37	3	38835351	38835351	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:38835351G>A	uc003ciq.2	-	1	151	c.151C>T	c.(151-153)CCT>TCT	p.P51S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	51					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGGGCCGAGGCTTCTCTTCT	0.552		NA											55	18					0	0	0	0
ZNF502	91392	broad.mit.edu	37	3	44763729	44763729	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:44763729C>T	uc011baa.1	+	4	1675	c.1420C>T	c.(1420-1422)CAT>TAT	p.H474Y	ZNF502_uc003cns.2_Missense_Mutation_p.H474Y|ZNF502_uc011bab.1_Missense_Mutation_p.H474Y|ZNF502_uc003cnt.2_Missense_Mutation_p.H474Y	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	474	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		AGCCTTTGCTCATAGCTCATC	0.418		NA											12	19					0	0	0	0
MYH15	22989	broad.mit.edu	37	3	108211382	108211382	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:108211382A>T	uc003dxa.1	-	10	953	c.896T>A	c.(895-897)TTC>TAC	p.F299Y		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	299	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						AATTTGATAGAATATGTGGTA	0.373		NA											7	20					0	0	0	0
PLOD2	5352	broad.mit.edu	37	3	145790383	145790383	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:145790383C>T	uc003evs.1	-	16	2256	c.1750G>A	c.(1750-1752)GAA>AAA	p.E584K	PLOD2_uc003evq.1_Missense_Mutation_p.E265K|PLOD2_uc011bnm.1_Missense_Mutation_p.E550K|PLOD2_uc003evr.1_Missense_Mutation_p.E605K	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	584					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	CCGTAATGTTCCATTTCTTCT	0.368		NA											14	53					0	0	0	0
SI	6476	broad.mit.edu	37	3	164732915	164732915	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:164732915G>A	uc003fei.2	-	33	4057	c.3995C>T	c.(3994-3996)GCA>GTA	p.A1332V		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1332	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAGTACCTTTGCCCAACAAAT	0.323		NA								HNSCC(35;0.089)			12	31					0	0	0	0
TNIK	23043	broad.mit.edu	37	3	170784416	170784416	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:170784416G>A	uc003fhh.2	-	31	4153	c.3808C>T	c.(3808-3810)CGG>TGG	p.R1270W	TNIK_uc003fhi.2_Missense_Mutation_p.R1215W|TNIK_uc003fhj.2_Missense_Mutation_p.R1241W|TNIK_uc003fhk.2_Missense_Mutation_p.R1262W|TNIK_uc003fhl.2_Missense_Mutation_p.R1186W|TNIK_uc003fhm.2_Missense_Mutation_p.R1207W|TNIK_uc003fhn.2_Missense_Mutation_p.R1233W|TNIK_uc003fho.2_Missense_Mutation_p.R1178W|TNIK_uc003fhg.2_Missense_Mutation_p.R448W|TNIK_uc003fhp.2_Missense_Mutation_p.R202W	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	1270	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTAGTTATCCGGCCATAGGTG	0.458		NA											11	99					0	0	0	0
NLGN1	22871	broad.mit.edu	37	3	173322785	173322785	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:173322785G>T	uc003fio.1	+	3	820	c.397G>T	c.(397-399)GTG>TTG	p.V133L	NLGN1_uc010hww.1_Missense_Mutation_p.V133L|NLGN1_uc003fip.1_Missense_Mutation_p.V133L	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	133	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CATGCTTCCTGTGTGGTTTAC	0.433		NA											144	73					3.39e-80	1.19e-79	1	0
NAALADL2	254827	broad.mit.edu	37	3	174814816	174814816	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:174814816A>G	uc003fit.2	+	2	367	c.280A>G	c.(280-282)AAA>GAA	p.K94E	NAALADL2_uc003fiu.1_Missense_Mutation_p.K87E	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	94	Cytoplasmic (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AACTTCACCCAAAGGAAGGTT	0.433		NA											11	70					0	0	0	0
ECE2	9718	broad.mit.edu	37	3	184002873	184002873	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:184002873C>A	uc003fni.3	+	9	1520	c.1482C>A	c.(1480-1482)CTC>CTA	p.L494L	ECE2_uc011brh.1_Silent_p.L347L|ECE2_uc003fnl.3_Silent_p.L422L|ECE2_uc003fnm.3_Silent_p.L376L|ECE2_uc003fnk.3_Silent_p.L347L|ECE2_uc011bri.1_Silent_p.L409L|ECE2_uc010hxv.2_Silent_p.L138L	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	494	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTCAGAGCTCATCAACCGCA	0.562		NA									OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	125					1.98e-07	6.04e-07	1	0
CYTL1	54360	broad.mit.edu	37	4	5016894	5016894	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:5016894G>A	uc003gig.2	-	4	420	c.395C>T	c.(394-396)CCA>CTA	p.P132L		NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN	cytokine-like 1 precursor	132					signal transduction	extracellular space|soluble fraction	receptor binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CTGACGATCTGGCAGGACCGT	0.483		NA											4	28					0	0	0	0
LPHN3	23284	broad.mit.edu	37	4	62812754	62812754	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:62812754C>G	uc010ihh.2	+	13	2511	c.2338C>G	c.(2338-2340)CCT>GCT	p.P780A	LPHN3_uc003hcq.3_Missense_Mutation_p.P780A|LPHN3_uc003hct.2_Missense_Mutation_p.P173A	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	767	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TGTCAATTCCCCTGTTATTAC	0.383		NA											33	121					0	0	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156309	70156309	+	Splice_Site	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:70156309G>A	uc003hej.2	+	5	1093	c.1091_splice	c.e5-1	p.G364_splice	UGT2B28_uc010ihr.2_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,						xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	TCCAATCCTAGGTCTTCCAAA	0.368		NA											29	59					0	0	0	0
CSN2	1447	broad.mit.edu	37	4	70823387	70823388	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:70823387_70823388GG>TT	uc003hes.3	-	5	292_293	c.279_280CC>AA	c.(277-282)GTCCCT>GTAACT	p.P94T	CSN2_uc003het.3_Missense_Mutation_p.P93T	NM_001891	NP_001882	P05814	CASB_HUMAN	casein beta precursor	94					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity				0						TCAGGCTGAGGGACAGGCAGCA	0.47		NA											13	63					0	0	0	0
GRID2	2895	broad.mit.edu	37	4	94032099	94032099	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:94032099A>T	uc011cdt.1	+	4	988	c.730A>T	c.(730-732)ACT>TCT	p.T244S	GRID2_uc010ikx.2_Missense_Mutation_p.T244S|GRID2_uc011cdu.1_Missense_Mutation_p.T149S|GRID2_uc011cdv.1_RNA	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	244	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATCCTTCATTACTGAGGTAAG	0.408		NA											27	34					0	0	0	0
UNC5C	8633	broad.mit.edu	37	4	96124103	96124103	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:96124103C>A	uc003htp.1	-	12	2069	c.1915G>T	c.(1915-1917)GTC>TTC	p.V639F	UNC5C_uc010ilc.1_Missense_Mutation_p.V658F	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	639	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCTCCCCGACCACCACCACA	0.602		NA											20	16					0.000132079	0.000381265	1	0
ANK2	287	broad.mit.edu	37	4	114277887	114277887	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:114277887C>T	uc003ibe.3	+	38	8213	c.8113C>T	c.(8113-8115)CCA>TCA	p.P2705S	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.P7S|ANK2_uc011cgb.1_Missense_Mutation_p.P2720S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2672					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAATTCCAGTCCAGAAGAAGT	0.423		NA											47	40					0	0	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952081	119952081	+	Silent	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:119952081A>T	uc003icm.3	+	4	2347	c.2151A>T	c.(2149-2151)TCA>TCT	p.S717S	SYNPO2_uc010ina.2_Silent_p.S717S|SYNPO2_uc010inb.2_Silent_p.S717S|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.S645S	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	717						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						TTCAAAATTCAGAAGGCAAAC	0.493		NA											14	34					0	0	0	0
PCDH10	57575	broad.mit.edu	37	4	134071332	134071332	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:134071332G>C	uc003iha.2	+	1	863	c.37G>C	c.(37-39)GTG>CTG	p.V13L	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V13L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	13					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GCTCTGGATGGTGGAAGGAGT	0.517		NA											28	103					0	0	0	0
STOX2	56977	broad.mit.edu	37	4	184931953	184931953	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:184931953G>A	uc003ivz.1	+	3	3397	c.1962G>A	c.(1960-1962)AAG>AAA	p.K654K	STOX2_uc003iwa.1_Silent_p.K343K	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	654					embryo development|maternal placenta development						0		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TGGGGCACAAGGAGGAGTCAC	0.637		NA											8	10					0	0	0	0
CDH10	1008	broad.mit.edu	37	5	24511543	24511543	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:24511543C>A	uc003jgr.1	-	6	1227	c.895G>T	c.(895-897)GGG>TGG	p.G299W	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	299	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		GCATTTTTCCCAGTGTCAGCA	0.423		NA								HNSCC(23;0.051)			19	84					9.77e-05	0.000282605	1	0
CDH9	1007	broad.mit.edu	37	5	26903856	26903856	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:26903856C>T	uc003jgs.1	-	6	1058	c.889G>A	c.(889-891)GTG>ATG	p.V297M	CDH9_uc010iug.2_Missense_Mutation_p.V297M	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	297	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TTTTCCCCCACGTCAGGGTCA	0.413		NA											35	126					0	0	0	0
CDH6	1004	broad.mit.edu	37	5	31323131	31323131	+	Missense_Mutation	SNP	C	C	A	rs149310360		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:31323131C>A	uc003jhe.1	+	12	2415	c.2089C>A	c.(2089-2091)CTT>ATT	p.L697I		NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	697	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.L697F(1)		ovary(4)|skin(2)|large_intestine(1)	7						GCCCGAAGCCCTTTTCCTACC	0.522		NA											26	41					1.25e-16	4.12e-16	1	0
NIPBL	25836	broad.mit.edu	37	5	37052609	37052609	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:37052609A>G	uc003jkl.3	+	42	7703	c.7204A>G	c.(7204-7206)AAC>GAC	p.N2402D	NIPBL_uc003jkk.3_Missense_Mutation_p.N2402D|NIPBL_uc003jkn.2_Missense_Mutation_p.N95D	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2402					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GATCCGTGGAAACCGCCAACA	0.413		NA											19	47					0	0	0	0
ITGA1	3672	broad.mit.edu	37	5	52211340	52211340	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:52211340A>T	uc003jou.2	+	15	1956	c.1904A>T	c.(1903-1905)CAG>CTG	p.Q635L	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.Q166L	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	635	Extracellular (Potential).|FG-GAP 7.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTTTTGGCCAGTCTATCCAC	0.418		NA											66	19					0	0	0	0
RASGRF2	5924	broad.mit.edu	37	5	80366391	80366391	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:80366391G>T	uc003kha.1	+	4	624	c.624G>T	c.(622-624)AAG>AAT	p.K208N	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Missense_Mutation_p.K36N	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	208	IQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACATCAAGAAGATTAAAAAGG	0.473		NA											14	19					1.58e-08	4.92e-08	1	0
MEF2C	4208	broad.mit.edu	37	5	88018719	88018719	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:88018719G>C	uc003kjj.2	-	11	1797	c.1124C>G	c.(1123-1125)TCT>TGT	p.S375C	MEF2C_uc003kji.2_Missense_Mutation_p.S367C|MEF2C_uc003kjk.2_Missense_Mutation_p.S375C|MEF2C_uc003kjm.2_Missense_Mutation_p.S365C|MEF2C_uc003kjl.2_Missense_Mutation_p.S385C	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	375	Transcription repressor.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGAACTCTGAGATAAATGAGT	0.478		NA								HNSCC(66;0.2)			5	8					0	0	0	0
FER	2241	broad.mit.edu	37	5	108523253	108523253	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:108523253A>G	uc003kop.1	+	20	2830	c.2446A>G	c.(2446-2448)ATC>GTC	p.I816V	FER_uc011cvg.1_Missense_Mutation_p.I641V	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	816	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGAGCTCACTATCATCAAGAG	0.418		NA											17	6					0	0	0	0
ZNF608	57507	broad.mit.edu	37	5	124080436	124080436	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:124080436G>C	uc003ktq.1	-	1	370	c.247C>G	c.(247-249)CTA>GTA	p.L83V	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.L83V|ZNF608_uc003ktt.1_Missense_Mutation_p.L83V	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	83						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCAAATTTTAGGCCATCAGCT	0.493		NA											18	18					0	0	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563721	140563721	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:140563721C>T	uc003liv.2	+	1	2742	c.1587C>T	c.(1585-1587)TTC>TTT	p.F529F		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	529	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCGAGTTCCGCGTGAGCG	0.682		NA											62	13					0	0	0	0
DOCK2	1794	broad.mit.edu	37	5	169446055	169446055	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:169446055A>G	uc003maf.2	+	33	3404	c.3324A>G	c.(3322-3324)ATA>ATG	p.I1108M	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.I600M	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1108	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGCCACCATACCAATCTTCT	0.453		NA											115	42					0	0	0	0
F13A1	2162	broad.mit.edu	37	6	6266819	6266819	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:6266819C>T	uc003mwv.2	-	4	666	c.543G>A	c.(541-543)ACG>ACA	p.T181T	F13A1_uc011dib.1_Silent_p.T118T	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	181					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGAGAATGTACGTGTCTGTTT	0.368		NA											23	70					0	0	0	0
CPNE5	57699	broad.mit.edu	37	6	36767826	36767826	+	Missense_Mutation	SNP	C	C	T	rs148202375		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:36767826C>T	uc003omr.1	-	4	272	c.205G>A	c.(205-207)GAC>AAC	p.D69N	CPNE5_uc003oms.1_Missense_Mutation_p.D31N	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	69	C2 1.									skin(1)	1						AGCGTGTTGTCGATGACTTCG	0.562		NA											8	27					0	0	0	0
KCNK16	83795	broad.mit.edu	37	6	39285582	39285582	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:39285582C>A	uc003ooq.2	-	3	489	c.475G>T	c.(475-477)GAC>TAC	p.D159Y	KCNK16_uc003oor.3_Missense_Mutation_p.D159Y|KCNK16_uc010jwy.2_Missense_Mutation_p.D159Y|KCNK16_uc011dtz.1_Missense_Mutation_p.D159Y	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	159	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(1)	3						CTGGGACGGTCCTCCCATCTT	0.498		NA											11	8					1.59e-06	4.76e-06	1	0
GPR116	221395	broad.mit.edu	37	6	46849211	46849211	+	Silent	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:46849211G>T	uc003oyo.3	-	8	1084	c.795C>A	c.(793-795)TCC>TCA	p.S265S	GPR116_uc003oyp.3_Silent_p.S265S|GPR116_uc003oyq.3_Silent_p.S265S|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Silent_p.S265S	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	265	SEA.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			CTGCTTGAAAGGAGTTGTAGT	0.353		NA											18	43					5.35e-07	1.62e-06	1	0
REV3L	5980	broad.mit.edu	37	6	111689002	111689002	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:111689002A>T	uc003puy.3	-	14	6312	c.5989T>A	c.(5989-5991)TGC>AGC	p.C1997S	REV3L_uc003pux.3_Missense_Mutation_p.C1919S|REV3L_uc003puz.3_Missense_Mutation_p.C1919S|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1997					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCACATTTGCAAGGCATAATC	0.453		NA						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					27	63					0	0	0	0
LAMA2	3908	broad.mit.edu	37	6	129670496	129670496	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:129670496G>A	uc003qbn.2	+	31	4595	c.4490G>A	c.(4489-4491)TGT>TAT	p.C1497Y	LAMA2_uc003qbo.2_Missense_Mutation_p.C1497Y	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1497	Laminin EGF-like 16.				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)		TGCACGGCTTGTCCACGGGGA	0.433		NA											20	35					0	0	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762658	130762658	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:130762658C>G	uc003qca.2	+	3	1962	c.1091C>G	c.(1090-1092)GCT>GGT	p.A364G	TMEM200A_uc010kfh.2_Missense_Mutation_p.A364G|TMEM200A_uc010kfi.2_Missense_Mutation_p.A364G|TMEM200A_uc003qcb.2_Missense_Mutation_p.A364G	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	364	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCATCTATGGCTCTCGGACCT	0.527		NA											17	30					0	0	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277410	131277410	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:131277410C>A	uc003qch.2	-	2	398	c.216G>T	c.(214-216)AGG>AGT	p.R72S	EPB41L2_uc003qcg.1_Missense_Mutation_p.R72S|EPB41L2_uc011eby.1_Missense_Mutation_p.R72S|EPB41L2_uc003qci.2_Missense_Mutation_p.R72S|EPB41L2_uc010kfk.2_Missense_Mutation_p.R72S|EPB41L2_uc010kfl.1_Missense_Mutation_p.R72S	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	72					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GAGAAATACCCCTGCTCTCCG	0.363		NA											35	70					3.76e-14	1.23e-13	1	0
MOXD1	26002	broad.mit.edu	37	6	132619016	132619016	+	Missense_Mutation	SNP	C	C	G	rs140134245	by1000genomes	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:132619016C>G	uc003qdf.2	-	11	1686	c.1587G>C	c.(1585-1587)TGG>TGC	p.W529C	MOXD1_uc003qde.2_Missense_Mutation_p.W461C	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	529	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CCTTTTTAGTCCATTTAAACT	0.403		NA											14	28					0	0	0	0
HEBP2	23593	broad.mit.edu	37	6	138734184	138734184	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:138734184A>C	uc003qhw.1	+	4	884	c.587A>C	c.(586-588)CAA>CCA	p.Q196P		NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	196						mitochondrion					0	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		TGGTTGATTCAAAAAAATGAA	0.363		NA											43	48					0	0	0	0
HIVEP2	3097	broad.mit.edu	37	6	143095631	143095631	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:143095631T>G	uc003qjd.2	-	5	988	c.245A>C	c.(244-246)AAG>ACG	p.K82T		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGATATTGCTTCTCTGCGAC	0.527		NA											36	66					0	0	0	0
COL28A1	340267	broad.mit.edu	37	7	7412808	7412808	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:7412808C>T	uc003src.1	-	32	2846	c.2729G>A	c.(2728-2730)CGT>CAT	p.R910H	COL28A1_uc011jxe.1_Missense_Mutation_p.R593H	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	910	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTTTATCACGAGAATCTGT	0.453		NA											17	37					0	0	0	0
PTPN12	5782	broad.mit.edu	37	7	77212881	77212881	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:77212881G>A	uc003ugh.2	+	4	386	c.295G>A	c.(295-297)GGG>AGG	p.G99R	PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_Intron|PTPN12_uc010ldq.1_RNA|PTPN12_uc010ldr.1_Intron	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	99	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						GGGCGTCTATGGGCCAAAAGC	0.299		NA											18	27					0	0	0	0
ABCB1	5243	broad.mit.edu	37	7	87179361	87179361	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:87179361C>T	uc003uiz.1	-	14	1778	c.1360G>A	c.(1360-1362)GAT>AAT	p.D454N	ABCB1_uc011khc.1_Missense_Mutation_p.D390N	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	454	ABC transporter 1.|Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCCTGTCCATCAACACTGACC	0.413		NA											44	54					0	0	0	0
TRRAP	8295	broad.mit.edu	37	7	98501107	98501107	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:98501107G>T	uc003upp.2	+	12	1212	c.1003G>T	c.(1003-1005)GCC>TCC	p.A335S	TRRAP_uc011kis.1_Missense_Mutation_p.A335S|TRRAP_uc003upr.2_Missense_Mutation_p.A27S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	335					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTGATTGCTGCCAAACACAT	0.498		NA											34	70					1.47e-24	5.07e-24	1	0
RELN	5649	broad.mit.edu	37	7	103214584	103214584	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:103214584C>A	uc003vca.2	-	30	4626	c.4466G>T	c.(4465-4467)GGG>GTG	p.G1489V	RELN_uc010liz.2_Missense_Mutation_p.G1489V	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1489					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCCTTTTCCCAGGGCCATT	0.473		NA											621	142					8.2e-283	2.89e-282	1	0
DPP6	1804	broad.mit.edu	37	7	154664386	154664386	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:154664386C>A	uc003wlk.2	+	19	1995	c.1866C>A	c.(1864-1866)TAC>TAA	p.Y622*	DPP6_uc003wli.2_Nonsense_Mutation_p.Y558*|DPP6_uc003wlm.2_Nonsense_Mutation_p.Y560*|DPP6_uc011kvq.1_Nonsense_Mutation_p.Y515*	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	622	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCACCCACTACCCTCTGCTCC	0.547		NA											6	4					0.00198382	0.00545193	1	0
ADAM28	10863	broad.mit.edu	37	8	24167753	24167753	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:24167753T>A	uc003xdy.2	+	4	388	c.305T>A	c.(304-306)ATG>AAG	p.M102K	ADAM28_uc003xdx.2_Missense_Mutation_p.M102K|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_RNA	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	102					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|lung(1)|central_nervous_system(1)	5		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCACAAATTATGGTATAACGG	0.403		NA											6	26					0	0	0	0
TRIM35	23087	broad.mit.edu	37	8	27145584	27145584	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:27145584G>C	uc003xfl.1	-	6	1047	c.965C>G	c.(964-966)ACC>AGC	p.T322S	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	322	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGTGACGCTGGTGAGGTCGTC	0.627		NA											15	48					0	0	0	0
DDHD2	23259	broad.mit.edu	37	8	38092023	38092023	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:38092023G>A	uc003xlb.2	+	3	709	c.332G>A	c.(331-333)AGA>AAA	p.R111K	DDHD2_uc003xla.2_Missense_Mutation_p.R111K|DDHD2_uc003xlc.2_Missense_Mutation_p.R111K|DDHD2_uc011lbl.1_5'UTR	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	111	WWE.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TCGGAAGTGAGACGATGTACG	0.448		NA											41	90					0	0	0	0
UBXN2B	137886	broad.mit.edu	37	8	59358527	59358527	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:59358527A>C	uc003xtl.2	+	7	855	c.733A>C	c.(733-735)AAT>CAT	p.N245H		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	245						cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				ovary(2)	2						ATCAATACTTAATGCAGTTGT	0.353		NA											17	47					0	0	0	0
CHD7	55636	broad.mit.edu	37	8	61764637	61764637	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:61764637C>A	uc003xue.2	+	29	6202	c.5725C>A	c.(5725-5727)CTG>ATG	p.L1909M		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1909					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CACTTCAACCCTGACTACACG	0.498		NA											13	21					1.05e-09	3.31e-09	1	0
TCEB1	6921	broad.mit.edu	37	8	74858964	74858964	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:74858964C>T	uc003xzx.1	-	4	325	c.240G>A	c.(238-240)AAG>AAA	p.K80K	TCEB1_uc003xzy.1_Silent_p.K80K|TCEB1_uc003xzz.1_Silent_p.K64K|TCEB1_uc003yaa.1_Silent_p.K80K	NM_005648	NP_005639	Q15369	ELOC_HUMAN	elongin C	80					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding				0	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TGTAGCGAACCTTGTACGTAA	0.413		NA											18	20					0	0	0	0
UBR5	51366	broad.mit.edu	37	8	103358499	103358499	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:103358499C>A	uc003ykr.1	-	7	734	c.701G>T	c.(700-702)GGG>GTG	p.G234V	UBR5_uc003yks.1_Missense_Mutation_p.G234V	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	234					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGTATCATCCCCATCATCTCC	0.428		NA											48	67					3.77e-18	1.26e-17	1	0
FANCG	2189	broad.mit.edu	37	9	35079225	35079225	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr9:35079225G>C	uc003zwb.1	-	2	590	c.98C>G	c.(97-99)TCC>TGC	p.S33C	FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.S33C	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	33					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTCAGACCGGAGTTCTGAGC	0.572		NA	Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				4	5					0	0	0	0
TDRD7	23424	broad.mit.edu	37	9	100222478	100222479	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr9:100222478_100222479GG>TT	uc004axj.2	+	7	1099_1100	c.874_875GG>TT	c.(874-876)GGT>TTT	p.G292F	TDRD7_uc011lux.1_Missense_Mutation_p.G218F	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	292	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				ACCTTGCAGTGGTGGCCAAGAT	0.376		NA											10	38					0	0	0	0
TUBB2C	10383	broad.mit.edu	37	9	140137531	140137531	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr9:140137531C>T	uc004cmh.1	+	4	963	c.861C>T	c.(859-861)CCC>CCT	p.P287P	TUBB2C_uc004cmg.1_Silent_p.P141P	NM_006088	NP_006079	P68371	TBB2C_HUMAN	tubulin, beta, 2	287					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGACCGTGCCCGAGCTCACCC	0.657		NA											41	36					0	0	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736659	12736659	+	Silent	SNP	G	G	T	rs148954983	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:12736659G>T	uc004cuz.1	+	16	4220	c.3714G>T	c.(3712-3714)CCG>CCT	p.P1238P	FRMPD4_uc011mij.1_Silent_p.P1230P	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1238					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						TGGAGTCGCCGCTCTGCCCCT	0.602		NA											40	12					3.09e-21	1.05e-20	1	0
PAK3	5063	broad.mit.edu	37	X	110435821	110435821	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:110435821C>A	uc004epa.2	+	10	1039	c.1012C>A	c.(1012-1014)CCT>ACT	p.P338T	PAK3_uc010npt.1_Missense_Mutation_p.P323T|PAK3_uc010npu.1_Missense_Mutation_p.P323T|PAK3_uc004eoy.1_Missense_Mutation_p.P78T|PAK3_uc004eoz.2_Missense_Mutation_p.P323T|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.P359T|PAK3_uc010npw.1_Missense_Mutation_p.P344T	NM_001128173	NP_001121645	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform d	338	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10						AAATAAGAACCCTAATATTGT	0.313		NA								TSP Lung(19;0.15)			6	6					0.00116845	0.0032266	1	0
IGSF1	3547	broad.mit.edu	37	X	130409178	130409178	+	Silent	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:130409178C>G	uc004ewd.2	-	17	3505	c.3267G>C	c.(3265-3267)GGG>GGC	p.G1089G	IGSF1_uc004ewe.3_Silent_p.G1083G|IGSF1_uc004ewf.2_Silent_p.G1069G	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1089	Extracellular (Potential).|Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						CTGGCAGTTCCCCTTGACACT	0.547		NA											102	13					0	0	0	0
USP26	83844	broad.mit.edu	37	X	132161248	132161248	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:132161248G>T	uc010nrm.1	-	6	1471	c.1001C>A	c.(1000-1002)CCC>CAC	p.P334H	USP26_uc011mvf.1_Missense_Mutation_p.P334H	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	334					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					AGCATTAAGGGGAATTTTACC	0.368		NA											29	4					6.07e-21	2.05e-20	1	0
AFF2	2334	broad.mit.edu	37	X	148048568	148048568	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:148048568C>A	uc004fcp.2	+	14	3641	c.3162C>A	c.(3160-3162)AGC>AGA	p.S1054R	AFF2_uc004fcq.2_Missense_Mutation_p.S1044R|AFF2_uc004fcr.2_Missense_Mutation_p.S1015R|AFF2_uc011mxb.1_Missense_Mutation_p.S1019R|AFF2_uc004fcs.2_Missense_Mutation_p.S1019R|AFF2_uc011mxc.1_Missense_Mutation_p.S695R	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1054					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TATCCAGCAGCAGCACTAATG	0.448		NA											132	21					7.55e-51	2.65e-50	1	0
HORMAD1	84072	broad.mit.edu	37	1	150686599	150686600	+	Splice_Site	INS	-	-	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:150686599_150686600insA	uc001evk.1	-	5	349	c.243_splice	c.e5-1	p.W81_splice	HORMAD1_uc001evl.1_Splice_Site_p.W81_splice|HORMAD1_uc001evm.1_Splice_Site_p.W10_splice	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1						blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCTAGCATCCTAAAAAAAAAAT	0.248		NA											7	103	---	---	---	---	NA	NA	NA	NA
PPP2R1B	5519	broad.mit.edu	37	11	111636073	111636074	+	In_Frame_Ins	INS	-	-	ATT			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:111636073_111636074insATT	uc001plx.1	-	2	233_234	c.149_150insAAT	c.(148-150)ATT>ATAATT	p.50_50I>II	PPP2R1B_uc001plw.1_In_Frame_Ins_p.50_50I>II|PPP2R1B_uc010rwi.1_Intron|PPP2R1B_uc010rwj.1_5'UTR|PPP2R1B_uc010rwk.1_In_Frame_Ins_p.50_50I>II|PPP2R1B_uc010rwl.1_In_Frame_Ins_p.50_50I>II	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	50	HEAT 1.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GTGCTAGGGCAATTGTTGATAA	0.361		NA											28	87	---	---	---	---	NA	NA	NA	NA
C12orf42	374470	broad.mit.edu	37	12	103695967	103695967	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:103695967delT	uc001tjt.2	-	6	1090	c.1002delA	c.(1000-1002)GCAfs	p.A334fs	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Frame_Shift_Del_p.A334fs|C12orf42_uc001tju.2_Frame_Shift_Del_p.A239fs	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	334										ovary(1)|central_nervous_system(1)	2						GGCGGGGGGGTGCTGAGGAGC	0.582		NA											14	101	---	---	---	---	NA	NA	NA	NA
MPP5	64398	broad.mit.edu	37	14	67784174	67784175	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr14:67784174_67784175insT	uc001xjc.2	+	11	1813_1814	c.1347_1348insT	c.(1345-1350)TTATATfs	p.L449fs	MPP5_uc001xjd.2_Frame_Shift_Ins_p.L415fs|ATP6V1D_uc001xje.2_Intron	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5	449_450					tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			ovary(1)	1				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AAAAGGTTTTATATAATGCCAA	0.342		NA											12	33	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7578505	7578515	+	Frame_Shift_Del	DEL	GGGCAGGTCTT	GGGCAGGTCTT	-			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:7578505_7578515delGGGCAGGTCTT	uc002gim.2	-	5	609_619	c.415_425delAAGACCTGCCC	c.(415-426)AAGACCTGCCCTfs	p.K139fs	TP53_uc002gig.1_Frame_Shift_Del_p.K139fs|TP53_uc002gih.2_Frame_Shift_Del_p.K139fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.K7fs|TP53_uc010cng.1_Frame_Shift_Del_p.K7fs|TP53_uc002gii.1_Frame_Shift_Del_p.K7fs|TP53_uc010cnh.1_Frame_Shift_Del_p.K139fs|TP53_uc010cni.1_Frame_Shift_Del_p.K139fs|TP53_uc002gij.2_Frame_Shift_Del_p.K139fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.K46fs|TP53_uc002gio.2_Frame_Shift_Del_p.K7fs|TP53_uc010vug.1_Frame_Shift_Del_p.K100fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	139_142	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> R (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(61)|p.T140I(12)|p.C141*(11)|p.C141R(10)|p.C141W(10)|p.K139N(8)|p.P142L(8)|p.K139K(7)|p.0?(7)|p.T140T(6)|p.K139fs*31(4)|p.C141C(4)|p.C141F(4)|p.K139fs*9(3)|p.P142H(3)|p.C141fs*29(3)|p.K139Q(2)|p.K139R(2)|p.K139E(2)|p.P142F(2)|p.P142A(2)|p.P142T(2)|p.P142S(2)|p.N131fs*27(2)|p.C141S(2)|p.P142fs*28(2)|p.C141fs*8(2)|p.K139*(2)|p.K139T(1)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.T140fs*9(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.V73fs*9(1)|p.A138_V143delAKTCPV(1)|p.T140N(1)|p.K139fs*11(1)|p.K139fs*10(1)|p.T140fs*30(1)|p.A138fs*31(1)|p.A138_P142delAKTCP(1)|p.C135_T140delCQLAKT(1)|p.Q136_K139delQLAK(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(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)		CAGCTGCACAGGGCAGGTCTTGGCCAGTTGG	0.573		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)			32	11	---	---	---	---	NA	NA	NA	NA
PSMA8	143471	broad.mit.edu	37	18	23772351	23772352	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:23772351_23772352insA	uc002kvq.2	+	7	861_862	c.747_748insA	c.(745-750)AAGAAAfs	p.K249fs	PSMA8_uc002kvo.2_Frame_Shift_Ins_p.K205fs|PSMA8_uc002kvp.2_Frame_Shift_Ins_p.K243fs|PSMA8_uc002kvr.2_Frame_Shift_Ins_p.K217fs	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	249_250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			AAGCAGAGAAGAAAAAATCAAA	0.302		NA											10	20	---	---	---	---	NA	NA	NA	NA
ATP1A3	478	broad.mit.edu	37	19	42492178	42492179	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:42492178_42492179insC	uc002osg.2	-	4	420_421	c.266_267insG	c.(265-267)GGCfs	p.G89fs	ATP1A3_uc010xwf.1_Frame_Shift_Ins_p.G100fs|ATP1A3_uc010xwg.1_Frame_Shift_Ins_p.G59fs|ATP1A3_uc010xwh.1_Frame_Shift_Ins_p.G102fs|ATP1A3_uc002osh.2_Frame_Shift_Ins_p.G89fs	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	89	Helical; (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						GGATGGAGAAGCCCCCGAAGAG	0.639		NA											94	66	---	---	---	---	NA	NA	NA	NA
MTUS1	57509	broad.mit.edu	37	8	17611420	17611431	+	In_Frame_Del	DEL	ACGCAGAAACGG	ACGCAGAAACGG	-			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:17611420_17611431delACGCAGAAACGG	uc003wxv.2	-	2	2360_2371	c.1886_1897delCCGTTTCTGCGT	c.(1885-1899)TCCGTTTCTGCGTTG>TTG	p.SVSA629del	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_In_Frame_Del_p.SVSA629del|MTUS1_uc010lsz.2_In_Frame_Del_p.SVSA629del	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	629_632						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		TTCTGAAACAACGCAGAAACGGACCCGGTCTC	0.434		NA											23	81	---	---	---	---	NA	NA	NA	NA
EBF2	64641	broad.mit.edu	37	8	25720221	25720231	+	Splice_Site	DEL	TTACCTTAGCT	TTACCTTAGCT	-			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:25720221_25720231delTTACCTTAGCT	uc003xes.1	-	11	1115	c.1098_splice	c.e11+1	p.K366_splice	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_Splice_Site	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCAAAGCACATTACCTTAGCTAATCTCTCAG	0.403		NA											9	54	---	---	---	---	NA	NA	NA	NA