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
CSMD2	114784	broad.mit.edu	37	1	34117999	34117999	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:34117999G>A	uc001bxn.1	-	28	4419	c.4390C>T	c.(4390-4392)CCC>TCC	p.P1464S	CSMD2_uc001bxm.1_Missense_Mutation_p.P1504S|CSMD2_uc001bxo.1_Missense_Mutation_p.P377S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1464	CUB 9.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGGGTAGGGTTCTGGGTAA	0.567		NA											34	108					0	0	0	0
PDE4B	5142	broad.mit.edu	37	1	66379018	66379018	+	Silent	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:66379018G>T	uc001dcn.2	+	2	212	c.21G>T	c.(19-21)GTG>GTT	p.V7V	PDE4B_uc009war.2_5'UTR|PDE4B_uc001dco.2_Silent_p.V7V	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	7					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GCAGGAGTGTGATGACGGTGA	0.393		NA											33	95					1.85e-21	2.16e-21	1	0
ELTD1	64123	broad.mit.edu	37	1	79385868	79385868	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:79385868C>G	uc001diq.3	-	10	1617	c.1461G>C	c.(1459-1461)AAG>AAC	p.K487N		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	487	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCCTACATACCTTATTAGTAT	0.313		NA											18	67					0	0	0	0
GSTM2	2946	broad.mit.edu	37	1	110211613	110211613	+	Splice_Site	SNP	T	T	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:110211613T>A	uc001dyi.2	+	3	491	c.177_splice	c.e3+2	p.N59_splice	GSTM2_uc001dyj.2_Splice_Site_p.N59_splice|GSTM2_uc010ovt.1_Splice_Site_p.N59_splice|GSTM2_uc009wfk.2_Splice_Site	NM_000848	NP_000839	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 isoform 1						glutathione metabolic process|xenobiotic catabolic process	cytoplasm	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TTTCCCAATGTAGGTGCAGGG	0.517		NA											20	106					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152279679	152279679	+	Missense_Mutation	SNP	C	C	A	rs143745201		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:152279679C>A	uc001ezu.1	-	3	7719	c.7683G>T	c.(7681-7683)AGG>AGT	p.R2561S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2561	Ser-rich.|Filaggrin 15.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R2561R(1)		ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCCCAGTTCCTGCTTGTCC	0.587		NA							Ichthyosis				129	327					1.49e-58	1.77e-58	1	0
ATP1A2	477	broad.mit.edu	37	1	160100019	160100019	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:160100019A>G	uc001fvc.2	+	12	1721	c.1589A>G	c.(1588-1590)GAG>GGG	p.E530G	ATP1A2_uc001fvb.2_Missense_Mutation_p.E530G|ATP1A2_uc001fvd.2_Missense_Mutation_p.E266G|ATP1A2_uc009wtg.1_Missense_Mutation_p.E218G	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	530	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCGACAAGGAGATGCAAGAT	0.612		NA											4	194					0	0	0	0
ASTN1	460	broad.mit.edu	37	1	176838011	176838011	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:176838011T>G	uc001glc.2	-	22	3828	c.3616A>C	c.(3616-3618)ACC>CCC	p.T1206P	ASTN1_uc001glb.1_Missense_Mutation_p.T1206P|ASTN1_uc001gld.1_Missense_Mutation_p.T1206P	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1214					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CATCGCCAGGTGAATTCCCCA	0.473		NA											8	142					0	0	0	0
ASPM	259266	broad.mit.edu	37	1	197070075	197070075	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:197070075A>C	uc001gtu.2	-	18	8563	c.8306T>G	c.(8305-8307)ATT>AGT	p.I2769S	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.I617S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2769					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTGGTTAACAATGGCTGCCAT	0.378		NA											6	190					0	0	0	0
PCNXL2	80003	broad.mit.edu	37	1	233388475	233388475	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr1:233388475T>G	uc001hvl.2	-	6	2129	c.1894A>C	c.(1894-1896)AGT>CGT	p.S632R	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_5'Flank	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	632						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TGCTTAGAACTGTGTCCACTG	0.408		NA											7	161					0	0	0	0
ZNF518A	9849	broad.mit.edu	37	10	97919954	97919954	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:97919954A>T	uc001klp.2	+	6	4732	c.3875A>T	c.(3874-3876)AAA>ATA	p.K1292I	ZNF518A_uc001klo.1_Missense_Mutation_p.K762I|ZNF518A_uc001klq.2_Missense_Mutation_p.K1292I|ZNF518A_uc001klr.2_Missense_Mutation_p.K1292I	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCAAGAAGAAAAGCAACATTG	0.373		NA											7	23					0	0	0	0
EIF3A	8661	broad.mit.edu	37	10	120809363	120809363	+	Missense_Mutation	SNP	G	G	A	rs150064739		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:120809363G>A	uc001ldu.2	-	17	2754	c.2608C>T	c.(2608-2610)CGG>TGG	p.R870W	EIF3A_uc010qsu.1_Missense_Mutation_p.R836W|EIF3A_uc009xzg.1_Translation_Start_Site	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	870	Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCTCTACGCCGTTCTCGTTCT	0.403		NA											103	274					0	0	0	0
EIF3A	8661	broad.mit.edu	37	10	120820798	120820798	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:120820798C>A	uc001ldu.2	-	8	1311	c.1165G>T	c.(1165-1167)GAC>TAC	p.D389Y	EIF3A_uc010qsu.1_Missense_Mutation_p.D355Y|SNORA19_uc001ldv.2_5'Flank	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	389	PCI.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTGTAAAGGTCTTTCACTTCT	0.348		NA											19	92					8.01e-06	8.78e-06	1	0
ACADSB	36	broad.mit.edu	37	10	124800144	124800144	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr10:124800144G>T	uc001lhb.2	+	4	583	c.466G>T	c.(466-468)GAA>TAA	p.E156*	ACADSB_uc010qub.1_Nonsense_Mutation_p.E54*	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	156					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	ACATGGAACAGAAGAACAAAA	0.368		NA											14	135					2.23e-06	2.47e-06	1	0
OR5L2	26338	broad.mit.edu	37	11	55594746	55594746	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:55594746T>C	uc001nhy.1	+	1	52	c.52T>C	c.(52-54)TCA>CCA	p.S18P		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				CCTTGGACTATCAGATGTCCC	0.453		NA								HNSCC(27;0.073)			17	393					0	0	0	0
OR5L2	26338	broad.mit.edu	37	11	55595025	55595025	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:55595025G>A	uc001nhy.1	+	1	331	c.331G>A	c.(331-333)GAG>AAG	p.E111K		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				TGGAGTCACTGAGGTCTTCCT	0.502		NA								HNSCC(27;0.073)			55	223					0	0	0	0
OR5T3	390154	broad.mit.edu	37	11	56020106	56020106	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:56020106T>C	uc010rjd.1	+	1	431	c.431T>C	c.(430-432)CTC>CCC	p.L144P		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	144	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					GAATGTTTTCTCTTGGCTGCA	0.403		NA											115	226					0	0	0	0
ANKRD42	338699	broad.mit.edu	37	11	82935940	82935940	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr11:82935940C>G	uc001ozz.1	+	6	968	c.546C>G	c.(544-546)TTC>TTG	p.F182L	ANKRD42_uc010rsv.1_Missense_Mutation_p.F210L|ANKRD42_uc001paa.2_Missense_Mutation_p.F210L|ANKRD42_uc001pab.1_Missense_Mutation_p.F209L	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	182	ANK 5.									skin(1)	1						GTTTCAAATTCCTAGTCAGTA	0.343		NA											3	138					0	0	0	0
A2ML1	144568	broad.mit.edu	37	12	9021749	9021749	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr12:9021749G>C	uc001quz.3	+	33	4269	c.4171G>C	c.(4171-4173)GTG>CTG	p.V1391L	A2ML1_uc001qva.1_Missense_Mutation_p.V971L|A2ML1_uc010sgm.1_Missense_Mutation_p.V891L|A2ML1_uc001qvb.1_RNA	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	1235						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						GCAACCCCTGGTGAAGAAGGT	0.443		NA											13	238					0	0	0	0
PXN	5829	broad.mit.edu	37	12	120651735	120651735	+	Silent	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr12:120651735T>C	uc001txt.2	-	11	1550	c.1419A>G	c.(1417-1419)GCA>GCG	p.A473A	PXN_uc001txu.2_Silent_p.A285A|PXN_uc001txv.2_Silent_p.A354A|PXN_uc001txx.2_Silent_p.A306A|PXN_uc001txy.2_Silent_p.A439A|PXN_uc001txz.2_RNA	NM_001080855	NP_001074324	P49023	PAXI_HUMAN	paxillin isoform 1	473	LIM zinc-binding 2.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			ovary(1)|breast(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACACTTGGGTGCGAACATGT	0.602		NA											3	10					0	0	0	0
GPR12	2835	broad.mit.edu	37	13	27333678	27333678	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:27333678C>T	uc010aal.2	-	2	509	c.287G>A	c.(286-288)GGA>GAA	p.G96E	GPR12_uc010tdl.1_Intron	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	96	Helical; Name=2; (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGTGATGAGTCCAATGCCGGC	0.547		NA											39	75					0	0	0	0
PCDH9	5101	broad.mit.edu	37	13	67802500	67802500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:67802500C>A	uc001vik.2	-	2	765	c.73G>T	c.(73-75)GAA>TAA	p.E25*	PCDH9_uc001vil.2_Nonsense_Mutation_p.E25*|PCDH9_uc010thl.1_Nonsense_Mutation_p.E25*|PCDH9_uc001vin.3_Nonsense_Mutation_p.E25*	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	25	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAAATAAGTTCTTGAGCTATT	0.408		NA											39	72					4.47e-08	4.98e-08	1	0
TNFSF13B	10673	broad.mit.edu	37	13	108922758	108922758	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:108922758G>T	uc001vqr.2	+	2	677	c.410G>T	c.(409-411)GGT>GTT	p.G137V	TNFSF13B_uc010agj.2_Missense_Mutation_p.G137V	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	tumor necrosis factor superfamily, member 13b	137	Extracellular (Potential).				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding				0	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			GCCGTTCAGGGTCCAGAAGAA	0.463		NA											18	64					1.34e-09	1.5e-09	1	0
NYNRIN	57523	broad.mit.edu	37	14	24884881	24884881	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:24884881G>A	uc001wpf.3	+	9	4244	c.3926G>A	c.(3925-3927)TGC>TAC	p.C1309Y		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1309					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						ACGTTCGTCTGCATCCACATG	0.617		NA											129	147					0	0	0	0
LRFN5	145581	broad.mit.edu	37	14	42357171	42357171	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:42357171A>C	uc001wvm.2	+	3	2541	c.1343A>C	c.(1342-1344)CAA>CCA	p.Q448P	LRFN5_uc010ana.2_Missense_Mutation_p.Q448P	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	448	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CGTATGTTTCAAATCCAGTAC	0.323		NA								HNSCC(30;0.082)			27	36					0	0	0	0
SIX6	4990	broad.mit.edu	37	14	60976178	60976178	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:60976178T>C	uc001xfa.3	+	1	241	c.62T>C	c.(61-63)CTG>CCG	p.L21P		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	21					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		TGTGAGACCCTGGAAGAGAGC	0.662		NA											10	107					0	0	0	0
AKAP5	9495	broad.mit.edu	37	14	64935861	64935861	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:64935861T>A	uc001xhd.3	+	2	1127	c.749T>A	c.(748-750)CTT>CAT	p.L250H	ZBTB25_uc001xhc.2_Intron	NM_004857	NP_004848	P24588	AKAP5_HUMAN	A-kinase anchor protein 5	250					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding				0				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		GCAAGCCCACTTGAAACTTCA	0.418		NA											135	93					0	0	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412488	105412488	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr14:105412488G>A	uc010axc.1	-	7	9420	c.9300C>T	c.(9298-9300)CCC>CCT	p.P3100P	AHNAK2_uc001ypx.2_Silent_p.P3000P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3100						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCACGTCGGGGGCCGTCA	0.632		NA											9	292					0	0	0	0
TRIM69	140691	broad.mit.edu	37	15	45047248	45047248	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:45047248A>G	uc001zuf.2	+	3	1052	c.157A>G	c.(157-159)ATG>GTG	p.M53V	TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron|TRIM69_uc001zug.1_Missense_Mutation_p.M53V|TRIM69_uc001zuh.1_Intron	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	tripartite motif-containing 69 isoform a	53	Necessary for nuclear localization (By similarity).|RING-type.				apoptosis	nuclear speck	zinc ion binding				0		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AGACCCACTGATGCTAAGCTG	0.458		NA											18	151					0	0	0	0
SEMA6D	80031	broad.mit.edu	37	15	48062786	48062786	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:48062786G>A	uc010bek.2	+	19	2386	c.2026G>A	c.(2026-2028)GCA>ACA	p.A676T	SEMA6D_uc001zvw.2_Missense_Mutation_p.A614T|SEMA6D_uc001zvy.2_Missense_Mutation_p.A676T|SEMA6D_uc001zvz.2_Missense_Mutation_p.A620T|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.A614T|SEMA6D_uc001zwc.2_Missense_Mutation_p.A601T	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	676	Helical; (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTTTTGGGGGCATTCATTGC	0.468		NA											5	211					0	0	0	0
UNC45A	55898	broad.mit.edu	37	15	91491052	91491052	+	Silent	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:91491052A>G	uc002bqg.2	+	11	1867	c.1527A>G	c.(1525-1527)GGA>GGG	p.G509G	UNC45A_uc002bqd.2_Silent_p.G494G|UNC45A_uc010uqr.1_5'UTR|UNC45A_uc002bqi.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	509					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTTCGGCTGGAGGGACTGACT	0.577		NA											4	54					0	0	0	0
CDR2	1039	broad.mit.edu	37	16	22361124	22361124	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr16:22361124T>A	uc002dkn.2	-	3	547	c.239A>T	c.(238-240)CAT>CTT	p.H80L		NM_001802	NP_001793	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2	80	Potential.					nucleus	protein binding			skin(1)	1				GBM - Glioblastoma multiforme(48;0.0188)		AACCTTTGCATGTTGTTCGTT	0.428		NA											63	148					0	0	0	0
VPS35	55737	broad.mit.edu	37	16	46717472	46717472	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr16:46717472T>C	uc002eef.3	-	2	149	c.50A>G	c.(49-51)GAT>GGT	p.D17G	VPS35_uc002eee.2_5'UTR	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	17					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TATGGCTTCATCCAAGAGCTT	0.458		NA											20	78					0	0	0	0
RBL2	5934	broad.mit.edu	37	16	53515593	53515593	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr16:53515593C>T	uc002ehi.3	+	21	3213	c.3095C>T	c.(3094-3096)CCT>CTT	p.P1032L	RBL2_uc002ehj.2_Missense_Mutation_p.P742L|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1032					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						ATGGATGCTCCTCCACTCTCT	0.313		NA											4	37					0	0	0	0
CRK	1398	broad.mit.edu	37	17	1340132	1340132	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:1340132C>T	uc002fsl.2	-	2	692	c.559G>A	c.(559-561)GTC>ATC	p.V187I	CRK_uc002fsm.2_Missense_Mutation_p.V187I	NM_016823	NP_058431	P46108	CRK_HUMAN	v-crk sarcoma virus CT10 oncogene homolog	187	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			lung(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		TACTTCTCGACGTAAGGGACT	0.577		NA											25	128					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:7578271T>A	uc002gim.2	-	6	772	c.578A>T	c.(577-579)CAT>CTT	p.H193L	TP53_uc002gig.1_Missense_Mutation_p.H193L|TP53_uc002gih.2_Missense_Mutation_p.H193L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61L|TP53_uc010cng.1_Missense_Mutation_p.H61L|TP53_uc002gii.1_Missense_Mutation_p.H61L|TP53_uc010cnh.1_Missense_Mutation_p.H193L|TP53_uc010cni.1_Missense_Mutation_p.H193L|TP53_uc002gij.2_Missense_Mutation_p.H193L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100L|TP53_uc002gio.2_Missense_Mutation_p.H61L|TP53_uc010vug.1_Missense_Mutation_p.H154L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	193	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			44	30					0	0	0	0
SLFN5	162394	broad.mit.edu	37	17	33592377	33592377	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:33592377G>T	uc002hjf.3	+	5	2263	c.2146G>T	c.(2146-2148)GGT>TGT	p.G716C	SLFN5_uc010wcg.1_3'UTR	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	716					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CCGCAATGCAGGTCCAATAGC	0.507		NA											34	91					2.08e-15	2.39e-15	1	0
SLFN11	91607	broad.mit.edu	37	17	33679727	33679727	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:33679727A>G	uc010ctp.2	-	7	2796	c.2354T>C	c.(2353-2355)GTG>GCG	p.V785A	SLFN11_uc010ctq.2_Missense_Mutation_p.V785A|SLFN11_uc002hjh.3_Missense_Mutation_p.V785A|SLFN11_uc002hjg.3_Missense_Mutation_p.V785A|SLFN11_uc010ctr.2_Missense_Mutation_p.V785A	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	785						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TATTTGCTCCACAGTCAAGTA	0.488		NA											13	46					0	0	0	0
C17orf98	388381	broad.mit.edu	37	17	36997562	36997562	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:36997562G>A	uc002hqv.2	-	1	81	c.81C>T	c.(79-81)CGC>CGT	p.R27R		NM_001080465	NP_001073934	A8MV24	CQ098_HUMAN	hypothetical protein LOC388381	27											0						GCCCATAAGCGCGGGCAGCGG	0.637		NA											4	85					0	0	0	0
IKZF3	22806	broad.mit.edu	37	17	37922445	37922445	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:37922445G>A	uc002hsu.2	-	8	1190	c.1128C>T	c.(1126-1128)GGC>GGT	p.G376G	IKZF3_uc002htd.2_Silent_p.G342G|IKZF3_uc010cwd.2_Silent_p.G233G|IKZF3_uc002hsv.2_Silent_p.G303G|IKZF3_uc010cwe.2_Silent_p.G242G|IKZF3_uc010cwf.2_Silent_p.G194G|IKZF3_uc010cwg.2_Silent_p.G155G|IKZF3_uc002hsw.2_Silent_p.G337G|IKZF3_uc002hsx.2_Silent_p.G320G|IKZF3_uc002hsy.2_Silent_p.G337G|IKZF3_uc002hsz.2_Silent_p.G281G|IKZF3_uc002hta.2_Silent_p.G298G|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Silent_p.G289G|IKZF3_uc002htc.2_Silent_p.G129G|IKZF3_uc010wel.1_Silent_p.G129G	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	376					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGGAGAGAGGCCTCTCTCAG	0.532		NA											15	199					0	0	0	0
SUPT4H1	6827	broad.mit.edu	37	17	56429452	56429452	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:56429452G>A	uc002iwe.1	-	1	112	c.45C>T	c.(43-45)GCC>GCT	p.A15A	uc010dct.1_RNA|uc010dcu.1_RNA|uc002ivz.2_RNA|uc010dcv.1_RNA|uc002iwa.2_RNA|uc002iwb.2_RNA|uc002iwc.2_RNA|SUPT4H1_uc002iwd.1_RNA	NM_003168	NP_003159	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1	15	Interaction with SUPT5H.				chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAGCAAACAGGCCCGCAGAT	0.632		NA											15	78					0	0	0	0
TLK2	11011	broad.mit.edu	37	17	60657496	60657496	+	Silent	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:60657496T>C	uc010ddp.2	+	16	1645	c.1377T>C	c.(1375-1377)AAT>AAC	p.N459N	TLK2_uc002izx.3_Silent_p.N285N|TLK2_uc002izz.3_Silent_p.N437N|TLK2_uc002jaa.3_Silent_p.N405N|TLK2_uc010wpd.1_Silent_p.N405N	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	459					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						CAACGCTAAATGACAGATATT	0.383		NA											16	63					0	0	0	0
RAB37	326624	broad.mit.edu	37	17	72741163	72741163	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr17:72741163T>C	uc002jlk.2	+	8	562	c.506T>C	c.(505-507)TTC>TCC	p.F169S	RAB37_uc002jlc.2_3'UTR|RAB37_uc010dfu.2_Missense_Mutation_p.F162S|RAB37_uc002jld.2_Missense_Mutation_p.F162S|RAB37_uc010wrb.1_Missense_Mutation_p.F137S|RAB37_uc010wrc.1_Missense_Mutation_p.F174S|RAB37_uc010wrd.1_Missense_Mutation_p.F137S|RAB37_uc010wre.1_Missense_Mutation_p.F132S|RAB37_uc002jll.3_RNA	NM_001006638	NP_001006639	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family isoform 2	169					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			ovary(1)	1						GGTGTTCCCTTCCTGGAGACC	0.627		NA									OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	72					0	0	0	0
TJP3	27134	broad.mit.edu	37	19	3738943	3738943	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:3738943G>A	uc010xhv.1	+	12	1541	c.1541G>A	c.(1540-1542)CGC>CAC	p.R514H	TJP3_uc010xhs.1_Missense_Mutation_p.R481H|TJP3_uc010xht.1_Missense_Mutation_p.R445H|TJP3_uc010xhu.1_Missense_Mutation_p.R490H|TJP3_uc010xhw.1_Missense_Mutation_p.R500H	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	495	SH3.					tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTACATCCGCACTCACTTT	0.647		NA											4	97					0	0	0	0
FCER2	2208	broad.mit.edu	37	19	7755094	7755094	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:7755094C>A	uc002mhn.2	-	10	863	c.679G>T	c.(679-681)GAC>TAC	p.D227Y	FCER2_uc010xjs.1_Missense_Mutation_p.D149Y|FCER2_uc010xjt.1_Missense_Mutation_p.D149Y|FCER2_uc002mhm.2_Missense_Mutation_p.D227Y	NM_002002	NP_001993	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor	227	C-type lectin.|Extracellular (Potential).				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding				0						CCCTTCAGGTCCAAGTTCCGA	0.617		NA											9	59					0.00448238	0.00466078	1	0
MUC16	94025	broad.mit.edu	37	19	9060492	9060492	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:9060492G>A	uc002mkp.2	-	3	27158	c.26954C>T	c.(26953-26955)GCT>GTT	p.A8985V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8987	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTCAGAGGAAGCAGGTATGGT	0.498		NA											29	183					0	0	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52129338	52129338	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:52129338C>G	uc002pxe.2	-	8	1550	c.1411G>C	c.(1411-1413)GGG>CGG	p.G471R		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	471	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCTGGTCTCCCAGCTGCTTGC	0.547		NA											11	120					0	0	0	0
ZNF845	91664	broad.mit.edu	37	19	53854664	53854664	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:53854664G>A	uc010ydv.1	+	4	853	c.736G>A	c.(736-738)GAT>AAT	p.D246N	ZNF845_uc010ydw.1_Missense_Mutation_p.D246N	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	246	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATATAAATGTGATGTGTGTGG	0.368		NA											8	75					0	0	0	0
NLRP8	126205	broad.mit.edu	37	19	56466469	56466469	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:56466469C>A	uc002qmh.2	+	3	1116	c.1045C>A	c.(1045-1047)CCC>ACC	p.P349T	NLRP8_uc010etg.2_Missense_Mutation_p.P349T	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	349	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCTGAAATGTCCCTCTCTCGT	0.453		NA											13	168					0.000219431	0.000232208	1	0
ZNF135	7694	broad.mit.edu	37	19	58579671	58579671	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr19:58579671G>C	uc010yhq.1	+	5	1951	c.1855G>C	c.(1855-1857)GAG>CAG	p.E619Q	ZNF135_uc002qre.2_Missense_Mutation_p.E607Q|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.E565Q|ZNF135_uc002qrg.2_Missense_Mutation_p.E577Q|ZNF135_uc010yhr.1_Missense_Mutation_p.E428Q	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	619					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAAGCCCTATGAGTGTCACGA	0.557		NA											5	167					0	0	0	0
CDKL4	344387	broad.mit.edu	37	2	39456583	39456583	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:39456583C>G	uc002rrm.2	-	1	91	c.91G>C	c.(91-93)GCT>CCT	p.A31P	CDKL4_uc010fal.1_Missense_Mutation_p.A31P	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	31	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)				TTTTTAACAGCTACTACTTGT	0.323		NA											4	199					0	0	0	0
MMADHC	27249	broad.mit.edu	37	2	150426656	150426656	+	Silent	SNP	A	A	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:150426656A>T	uc002txb.2	-	7	1228	c.723T>A	c.(721-723)ACT>ACA	p.T241T	MMADHC_uc002txc.2_Silent_p.T241T|MMADHC_uc010fnu.2_Silent_p.T275T	NM_015702	NP_056517	Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency)	241						mitochondrion				central_nervous_system(1)|skin(1)	2						TTTCAAAAAGAGTGTTGTTTG	0.343		NA											12	60					0	0	0	0
NEB	4703	broad.mit.edu	37	2	152580789	152580789	+	Silent	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:152580789G>C	uc010fnx.2	-	8	788	c.597C>G	c.(595-597)ACC>ACG	p.T199T		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	199	Nebulin 4.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGAACATGGCGGTGTTCTTAA	0.453		NA											7	31					0	0	0	0
DCAF17	80067	broad.mit.edu	37	2	172309702	172309702	+	Silent	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:172309702G>T	uc002ugx.2	+	6	835	c.606G>T	c.(604-606)GGG>GGT	p.G202G	DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Silent_p.G202G|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_5'UTR	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17 isoform 1	202	Helical; (Potential).					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus					0						CACTTGTAGGGATTCTAGAGA	0.328		NA											6	112					8.13e-05	8.62e-05	1	0
FAM126B	285172	broad.mit.edu	37	2	201881853	201881853	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:201881853C>G	uc002uws.3	-	5	382	c.194G>C	c.(193-195)CGT>CCT	p.R65P	FAM126B_uc002uwu.2_5'UTR|FAM126B_uc002uwv.2_Missense_Mutation_p.R65P|FAM126B_uc002uww.1_Missense_Mutation_p.R65P	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	65						intracellular				ovary(1)	1						CTCTGAGCTACGATAGAGCTC	0.423		NA											8	81					0	0	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263354	232263354	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr2:232263354C>T	uc002vrs.2	+	2	1104	c.924C>T	c.(922-924)AGC>AGT	p.S308S		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	308	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGGCCGGCAGCCTGGCCCGGC	0.652		NA											13	15					0	0	0	0
PTPRT	11122	broad.mit.edu	37	20	40743873	40743873	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr20:40743873G>T	uc002xkg.2	-	22	3249	c.3065C>A	c.(3064-3066)GCA>GAA	p.A1022E	PTPRT_uc010ggj.2_Missense_Mutation_p.A1041E|PTPRT_uc010ggi.2_Missense_Mutation_p.A225E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1022	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GACGTATTCTGCCAGGGGCTC	0.488		NA											30	143					4.23e-30	4.99e-30	1	0
SETD2	29072	broad.mit.edu	37	3	47164649	47164649	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:47164649G>A	uc003cqs.2	-	3	1530	c.1477C>T	c.(1477-1479)CGG>TGG	p.R493W	SETD2_uc003cqv.2_Missense_Mutation_p.R482W	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTACAGTCCCGATCAGATTTA	0.383		NA	N|F|S|Mis		clear cell renal carcinoma								3	46					0	0	0	0
PBRM1	55193	broad.mit.edu	37	3	52651513	52651513	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:52651513T>A	uc003des.2	-	14	1595	c.1583A>T	c.(1582-1584)AAT>ATT	p.N528I	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.N528I|PBRM1_uc003der.2_Missense_Mutation_p.N496I|PBRM1_uc003det.2_Missense_Mutation_p.N543I|PBRM1_uc003deu.2_Missense_Mutation_p.N543I|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.N528I|PBRM1_uc010hmk.1_Missense_Mutation_p.N528I|PBRM1_uc003dey.2_Missense_Mutation_p.N528I|PBRM1_uc003dez.1_Missense_Mutation_p.N528I|PBRM1_uc003dfb.1_Missense_Mutation_p.N441I|PBRM1_uc003dfc.2_5'Flank	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	528					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAGAACAACATTGAATAAGAT	0.348		NA	Mis|N|F|S|D|O		clear cell renal carcinoma|breast								33	51					0	0	0	0
CADPS	8618	broad.mit.edu	37	3	62388773	62388773	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:62388773G>T	uc003dll.2	-	29	4225	c.3865C>A	c.(3865-3867)CTA>ATA	p.L1289I	CADPS_uc003dlj.1_Missense_Mutation_p.L244I|CADPS_uc003dlk.1_Missense_Mutation_p.L737I|CADPS_uc003dlm.2_Missense_Mutation_p.L1250I|CADPS_uc003dln.2_Missense_Mutation_p.L1210I	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1289	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATCCTAATTAGTGTTTTCAAC	0.373		NA											14	35					0.00185496	0.00194817	1	0
CCDC14	64770	broad.mit.edu	37	3	123633809	123633809	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:123633809C>T	uc011bjx.1	-	13	2770	c.2679G>A	c.(2677-2679)GTG>GTA	p.V893V	CCDC14_uc003egv.3_Silent_p.V534V|CCDC14_uc003egx.3_Silent_p.V693V|CCDC14_uc010hrt.2_Silent_p.V852V|CCDC14_uc003egy.3_Silent_p.V693V|CCDC14_uc003egz.2_3'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	893						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TATTGCCTTTCACTTGAAGGC	0.458		NA											11	48					0	0	0	0
PLCH1	23007	broad.mit.edu	37	3	155301387	155301387	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:155301387C>T	uc011bok.1	-	5	886	c.609G>A	c.(607-609)GAG>GAA	p.E203E	PLCH1_uc011boj.1_Silent_p.E203E|PLCH1_uc011bol.1_Silent_p.E185E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	203	EF-hand 2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAACACAGAACTCTTCAAATG	0.358		NA											35	58					0	0	0	0
ZBBX	79740	broad.mit.edu	37	3	167000124	167000124	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:167000124T>C	uc003fep.2	-	19	2362	c.2039A>G	c.(2038-2040)GAT>GGT	p.D680G	ZBBX_uc011bpc.1_Missense_Mutation_p.D719G|ZBBX_uc003feq.2_Missense_Mutation_p.D651G	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	680						intracellular	zinc ion binding			ovary(2)	2						GTCAGTAATATCAATATATTC	0.383		NA											18	162					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			20	122					0	0	0	0
BEND4	389206	broad.mit.edu	37	4	42145872	42145872	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:42145872G>A	uc003gwn.2	-	3	1207	c.627C>T	c.(625-627)AAC>AAT	p.N209N	BEND4_uc003gwm.2_Silent_p.N209N|BEND4_uc011byy.1_Silent_p.N209N	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	209											0						CCTGTCTTTCGTTGTAACTTG	0.443		NA											11	38					0	0	0	0
FAT4	79633	broad.mit.edu	37	4	126369690	126369690	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:126369690G>T	uc003ifj.3	+	9	7519	c.7519G>T	c.(7519-7521)GGT>TGT	p.G2507C	FAT4_uc011cgp.1_Missense_Mutation_p.G805C|FAT4_uc003ifi.1_5'UTR	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2507	Extracellular (Potential).|Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTCTCTTTCGGGTAGAAATTC	0.423		NA											9	129					2.18e-05	2.35e-05	1	0
NPY5R	4889	broad.mit.edu	37	4	164272513	164272513	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr4:164272513C>A	uc003iqn.2	+	4	1270	c.1088C>A	c.(1087-1089)TCT>TAT	p.S363Y		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	363	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAAAGAGATCTCGAAGTGTT	0.358		NA											16	110					0.000422831	0.000445198	1	0
PRDM9	56979	broad.mit.edu	37	5	23510109	23510109	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:23510109G>T	uc003jgo.2	+	4	456	c.274G>T	c.(274-276)GAT>TAT	p.D92Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	92					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGAAGATTCTGATGAAGAATG	0.363		NA								HNSCC(3;0.000094)			11	85					2.81e-09	3.14e-09	1	0
FYB	2533	broad.mit.edu	37	5	39110492	39110492	+	Splice_Site	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:39110492C>G	uc003jls.2	-	15	2331	c.2264_splice	c.e15-1	p.Y755_splice	FYB_uc003jlt.2_Splice_Site_p.Y801_splice|FYB_uc003jlu.2_Splice_Site_p.Y755_splice|FYB_uc011cpl.1_Splice_Site_p.Y811_splice	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2						cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			ACATAACCATCTACGAAGGAA	0.308		NA											5	49					0	0	0	0
CARD6	84674	broad.mit.edu	37	5	40854367	40854367	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:40854367A>T	uc003jmg.2	+	3	3008	c.2933A>T	c.(2932-2934)CAG>CTG	p.Q978L		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	978	Pro-rich.				apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						TGTCAGTCCCAGCCCTCCCAA	0.532		NA											12	513					0	0	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79734565	79734565	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:79734565C>T	uc003kgr.3	+	4	2363	c.2061C>T	c.(2059-2061)ATC>ATT	p.I687I	ZFYVE16_uc010jak.1_Silent_p.I687I|ZFYVE16_uc003kgp.2_Silent_p.I687I|ZFYVE16_uc003kgq.3_Silent_p.I687I|ZFYVE16_uc003kgs.3_Silent_p.I687I	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	687					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTGTTCCAATCACTTGTGCTA	0.403		NA											4	128					0	0	0	0
RIOK2	55781	broad.mit.edu	37	5	96503521	96503521	+	Silent	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:96503521C>G	uc003kmz.2	-	8	1157	c.1047G>C	c.(1045-1047)GGG>GGC	p.G349G	RIOK2_uc003kna.3_Silent_p.G349G	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2 isoform 1	349	Protein kinase.						ATP binding|protein serine/threonine kinase activity			kidney(1)	1		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CATTTTCTGACCCGTAAACCT	0.393		NA											50	279					0	0	0	0
VDAC1	7416	broad.mit.edu	37	5	133326807	133326807	+	Silent	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:133326807G>C	uc003kyp.1	-	4	255	c.156C>G	c.(154-156)ACC>ACG	p.T52T	VDAC1_uc003kyq.1_Silent_p.T52T|VDAC1_uc003kyr.1_Silent_p.T52T	NM_003374	NP_003365	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	52					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CCGTCACTTTGGTGGTCTCAG	0.488		NA											32	167					0	0	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140746136	140746136	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr5:140746136C>T	uc003lju.1	+	1	2239	c.2239C>T	c.(2239-2241)CGG>TGG	p.R747W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.R747W	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	747	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGGGGTTCGGGCTTTCCT	0.627		NA											49	125					0	0	0	0
SERPINB6	5269	broad.mit.edu	37	6	2953378	2953378	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:2953378A>C	uc003muk.2	-	4	2468	c.473T>G	c.(472-474)TTG>TGG	p.L158W	SERPINB6_uc003mui.2_Missense_Mutation_p.L41W|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.L158W|SERPINB6_uc003mum.2_Missense_Mutation_p.L158W|SERPINB6_uc003mun.2_Missense_Mutation_p.L158W|SERPINB6_uc003muo.2_Missense_Mutation_p.L158W	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	158					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CAGCCTTGTCAATGGATCCAC	0.502		NA									OREG0017145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	475					0	0	0	0
OR2J2	26707	broad.mit.edu	37	6	29141542	29141542	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:29141542C>G	uc011dlm.1	+	1	232	c.130C>G	c.(130-132)CTG>GTG	p.L44V		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GACAGGAAACCTGTTCATCAT	0.428		NA											57	315					0	0	0	0
MUC21	394263	broad.mit.edu	37	6	30954441	30954441	+	Silent	SNP	C	C	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:30954441C>T	uc003nsh.2	+	2	740	c.489C>T	c.(487-489)AGC>AGT	p.S163S	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	163	Ser-rich.|28 X 15 AA approximate tandem repeats.|9.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GTGAGGCCAGCACAGCCACCA	0.617		NA											71	290					0	0	0	0
MUC21	394263	broad.mit.edu	37	6	30954455	30954455	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:30954455C>G	uc003nsh.2	+	2	754	c.503C>G	c.(502-504)TCT>TGT	p.S168C	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	168	28 X 15 AA approximate tandem repeats.|Ser-rich.|10.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GCCACCAACTCTGAGTCCAGC	0.607		NA											77	317					0	0	0	0
C6orf26	401251	broad.mit.edu	37	6	31731931	31731931	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:31731931G>A	uc003nxa.3	+	3	405	c.346G>A	c.(346-348)GAG>AAG	p.E116K	MSH5_uc003nwz.3_RNA	NM_001039651	NP_001034740	Q5SSQ6	G7D_HUMAN	hypothetical protein LOC401251	116											0						TCTGATTCATGAGAAGGTGAG	0.443		NA											27	227					0	0	0	0
MEP1A	4224	broad.mit.edu	37	6	46802421	46802421	+	Silent	SNP	C	C	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:46802421C>G	uc010jzh.1	+	12	1758	c.1716C>G	c.(1714-1716)TCC>TCG	p.S572S	MEP1A_uc011dwg.1_Silent_p.S294S|MEP1A_uc011dwh.1_Silent_p.S600S|MEP1A_uc011dwi.1_Silent_p.S472S	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	572	MATH.|Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			GTTTCATTTCCCACCAAATGC	0.438		NA											6	183					0	0	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763885	110763885	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:110763885A>C	uc003puf.2	-	4	812	c.745T>G	c.(745-747)TTT>GTT	p.F249V	SLC22A16_uc003pue.2_Missense_Mutation_p.F230V	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	249	Helical; (Potential).				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACTGCAAAAAAGGAATGCAAA	0.483		NA											24	80					0	0	0	0
NKAIN2	154215	broad.mit.edu	37	6	124979372	124979372	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:124979372G>A	uc003pzo.2	+	4	591	c.314G>A	c.(313-315)CGA>CAA	p.R105Q	NKAIN2_uc003pzn.1_Missense_Mutation_p.R105Q|NKAIN2_uc003pzp.2_Missense_Mutation_p.R104Q|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Missense_Mutation_p.R15Q	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	105						integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)		TCAATGCACCGATCTTGGTGG	0.463		NA											20	95					0	0	0	0
RAET1E	135250	broad.mit.edu	37	6	150210664	150210664	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:150210664G>T	uc003qnl.1	-	3	502	c.442C>A	c.(442-444)CTC>ATC	p.L148I	uc003qni.1_Intron|RAET1E_uc003qnj.2_Missense_Mutation_p.L148I|RAET1E_uc003qnk.1_Missense_Mutation_p.L112I|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	148	Extracellular (Potential).|MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TCAAAGAGGAGGGATTTCTCT	0.468		NA											6	162					1.13e-05	1.23e-05	1	0
MTRF1L	54516	broad.mit.edu	37	6	153316432	153316432	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:153316432G>A	uc003qpi.3	-	3	467	c.362C>T	c.(361-363)TCA>TTA	p.S121L	MTRF1L_uc003qpl.3_Missense_Mutation_p.S121L|MTRF1L_uc011efa.1_Missense_Mutation_p.S121L|MTRF1L_uc003qpj.3_Intron|MTRF1L_uc003qpk.3_Missense_Mutation_p.S121L	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor	121						mitochondrion	translation release factor activity, codon specific				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TGTTTCTTCTGAGGGAACCAA	0.303		NA											5	48					0	0	0	0
THSD7A	221981	broad.mit.edu	37	7	11464388	11464388	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:11464388G>A	uc003ssf.3	-	15	3570	c.3318C>T	c.(3316-3318)ATC>ATT	p.I1106I		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1106	TSP type-1 11.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCACCTTGCAGATGCTCCAGG	0.493		NA								HNSCC(18;0.044)			43	265					0	0	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590840	83590840	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:83590840G>A	uc003uhz.2	-	17	2478	c.2163C>T	c.(2161-2163)TTC>TTT	p.F721F		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	721					axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						CTTGTTCACAGAACTCATCCA	0.453		NA											16	176					0	0	0	0
GRM3	2913	broad.mit.edu	37	7	86394556	86394556	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:86394556A>G	uc003uid.2	+	2	1194	c.95A>G	c.(94-96)GAG>GGG	p.E32G	GRM3_uc010lef.2_Missense_Mutation_p.E30G|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	32	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTAAGGAGAGAGATTAAAATA	0.408		NA											7	204					0	0	0	0
INSIG1	3638	broad.mit.edu	37	7	155093339	155093339	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr7:155093339G>C	uc003wly.2	+	3	687	c.476G>C	c.(475-477)AGA>ACA	p.R159T	INSIG1_uc011kvu.1_Intron|INSIG1_uc003wlz.2_Intron	NM_005542	NP_005533	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 1	159	Cytoplasmic.				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAATTTAAGAGAGAATGGGCC	0.443		NA											79	197					0	0	0	0
ADRB3	155	broad.mit.edu	37	8	37823588	37823588	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr8:37823588C>A	uc003xkr.1	-	1	597	c.400G>T	c.(400-402)GAC>TAC	p.D134Y		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	134	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			lung(2)	2	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	AGGTAGCGGTCCACGGCCAGG	0.692		NA											8	10					1.13e-05	1.23e-05	1	0
STK3	6788	broad.mit.edu	37	8	99468078	99468078	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr8:99468078T>G	uc003yip.2	-	11	1609	c.1468A>C	c.(1468-1470)AAC>CAC	p.N490H	STK3_uc003yio.2_Missense_Mutation_p.N518H	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	490					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		ACTCAAAAGTTTTGCTGCCTT	0.388		NA											6	55					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413947	139413947	+	Silent	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr9:139413947G>A	uc004chz.2	-	5	813	c.813C>T	c.(811-813)GCC>GCT	p.A271A		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	271	Extracellular (Potential).|EGF-like 7; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTCCACACAGGCACCCCCGT	0.647		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			41	126					0	0	0	0
PNPLA7	375775	broad.mit.edu	37	9	140361788	140361788	+	Missense_Mutation	SNP	C	C	T	rs28415505		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr9:140361788C>T	uc004cnf.2	-	25	3282	c.2945G>A	c.(2944-2946)CGG>CAG	p.R982Q	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.R248Q|PNPLA7_uc004cne.1_Missense_Mutation_p.R248Q|PNPLA7_uc011mfa.1_Missense_Mutation_p.R390Q|PNPLA7_uc010ncj.1_Missense_Mutation_p.R1007Q	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	982	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTGCTTGGCCCGGATCCGCAT	0.672		NA											18	39					0	0	0	0
FAM47C	442444	broad.mit.edu	37	X	37029320	37029320	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chrX:37029320A>T	uc004ddl.1	+	1	2851	c.2837A>T	c.(2836-2838)AAG>ATG	p.K946M		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	946										ovary(3)	3						CTCAAGCCTAAGTTGGGGAAA	0.453		NA											49	50					0	0	0	0
SYP	6855	broad.mit.edu	37	X	49049871	49049871	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chrX:49049871G>A	uc004dmz.1	-	5	489	c.473C>T	c.(472-474)TCG>TTG	p.S158L	SYP_uc011mmz.1_Missense_Mutation_p.S40L|SYP_uc004dna.1_Missense_Mutation_p.S152L	NM_003179	NP_003170	P08247	SYPH_HUMAN	synaptophysin	158	MARVEL.|Helical; (Potential).		S -> L.		regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(315;0.00016)				GGCCCATGCCGATGAGCTAAC	0.562		NA											11	10					0	0	0	0
ODZ1	10178	broad.mit.edu	37	X	123587207	123587207	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chrX:123587207A>G	uc004euj.2	-	22	4127	c.4063T>C	c.(4063-4065)TCA>CCA	p.S1355P	ODZ1_uc011muj.1_Missense_Mutation_p.S1361P|ODZ1_uc010nqy.2_Missense_Mutation_p.S1362P	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1355	NHL 3.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TCCATTCCTGAGTCACAGCTC	0.413		NA											4	98					0	0	0	0
ACACB	32	broad.mit.edu	37	12	109698310	109698323	+	Frame_Shift_Del	DEL	TGGAGCCTACATCG	TGGAGCCTACATCG	-	rs142275188		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr12:109698310_109698323delTGGAGCCTACATCG	uc001tob.2	+	48	6641_6654	c.6522_6535delTGGAGCCTACATCG	c.(6520-6537)TTTGGAGCCTACATCGTGfs	p.F2174fs	ACACB_uc001toc.2_Frame_Shift_Del_p.F2174fs|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Frame_Shift_Del_p.F840fs	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2174_2179	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TGCTGAAGTTTGGAGCCTACATCGTGGACGGCCT	0.542		NA											31	185	---	---	---	---	NA	NA	NA	NA
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr13:23914687delT	uc001uon.2	-	10	3917	c.3328delA	c.(3328-3330)ATTfs	p.I1110fs	SACS_uc001uoo.2_Frame_Shift_Del_p.I963fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1110					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383		NA											7	500	---	---	---	---	NA	NA	NA	NA
RASGRP1	10125	broad.mit.edu	37	15	38786881	38786881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:38786881delC	uc001zke.3	-	16	2139	c.1961delG	c.(1960-1962)GGAfs	p.G654fs	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Intron|RASGRP1_uc010bbg.2_Intron|RASGRP1_uc001zkd.3_Frame_Shift_Del_p.G619fs	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	654					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGAGGACACTCCCATCAGCAT	0.527		NA											27	19	---	---	---	---	NA	NA	NA	NA
ADPGK	83440	broad.mit.edu	37	15	73044826	73044827	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr15:73044826_73044827insT	uc002avg.3	-	7	1443_1444	c.1349_1350insA	c.(1348-1350)AAGfs	p.K450fs	ADPGK_uc002ave.3_Frame_Shift_Ins_p.K175fs|ADPGK_uc010ukw.1_Frame_Shift_Ins_p.K392fs|ADPGK_uc002avf.3_Frame_Shift_Ins_p.K449fs|ADPGK_uc002avi.3_Frame_Shift_Ins_p.K327fs|ADPGK_uc002avh.3_Frame_Shift_Ins_p.K211fs	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	450	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding				0						CTACTACTGGCTTGTTTGGGTT	0.49		NA											14	237	---	---	---	---	NA	NA	NA	NA
SAMD10	140700	broad.mit.edu	37	20	62608688	62608706	+	Frame_Shift_Del	DEL	AGTGGCAGGGGATGCTCTC	AGTGGCAGGGGATGCTCTC	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr20:62608688_62608706delAGTGGCAGGGGATGCTCTC	uc002yhm.2	-	2	320_338	c.145_163delGAGAGCATCCCCTGCCACT	c.(145-165)GAGAGCATCCCCTGCCACTTGfs	p.E49fs	SAMD10_uc002yhn.2_RNA	NM_080621	NP_542188	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	49_55											0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GTCCGAGGCAAGTGGCAGGGGATGCTCTCAGCTGACACC	0.658		NA											18	97	---	---	---	---	NA	NA	NA	NA
NF2	4771	broad.mit.edu	37	22	30057317	30057318	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr22:30057317_30057318insGT	uc003age.3	+	8	1242_1243	c.799_800insGT	c.(799-801)AGTfs	p.S267fs	NF2_uc003afy.3_Frame_Shift_Ins_p.S267fs|NF2_uc003afz.3_Frame_Shift_Ins_p.S184fs|NF2_uc003agf.3_Frame_Shift_Ins_p.S267fs|NF2_uc003agb.3_Frame_Shift_Ins_p.S190fs|NF2_uc003agc.3_Frame_Shift_Ins_p.S229fs|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Frame_Shift_Ins_p.S267fs|NF2_uc003aga.3_Frame_Shift_Ins_p.S225fs|NF2_uc003agh.3_Frame_Shift_Ins_p.S226fs|NF2_uc003agi.3_Frame_Shift_Ins_p.S184fs|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Frame_Shift_Ins_p.S229fs	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	267	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.L127_D382del(1)|p.N226_E270del(1)|p.?(1)		meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						CATCTCGTACAGTGACAAGGAG	0.554		NA	D|Mis|N|F|S|O		meningioma|acoustic neuroma|renal 	meningioma|acoustic neuroma			Neurofibromatosis_type_2				86	77	---	---	---	---	NA	NA	NA	NA
BAIAP2L2	80115	broad.mit.edu	37	22	38483189	38483190	+	In_Frame_Ins	INS	-	-	GGTCATGGA	rs71803583		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr22:38483189_38483190insGGTCATGGA	uc003auw.2	-	11	1344_1345	c.1200_1201insTCCATGACC	c.(1198-1203)insTCCATGACC	p.403_404insSMT	BAIAP2L2_uc003auv.2_5'Flank	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	403_404					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					gaggtcatggaggtcatggggg	0.45		NA											7	38	---	---	---	---	NA	NA	NA	NA
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:10088407_10088410delAGTA	uc003buw.2	+	15	1356	c.1278_splice	c.e15+1	p.L426_splice	FANCD2_uc003bux.1_Splice_Site_p.L426_splice|FANCD2_uc003buy.1_Splice_Site_p.L426_splice|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform						DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.235		NA	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				19	69	---	---	---	---	NA	NA	NA	NA
LRRC34	151827	broad.mit.edu	37	3	169514642	169514643	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr3:169514642_169514643delAG	uc003ffx.2	-	7	678_679	c.663_664delCT	c.(661-666)CACTGTfs	p.H221fs	LRRC34_uc003ffy.2_Frame_Shift_Del_p.H253fs|LRRC34_uc011bpn.1_Frame_Shift_Del_p.H253fs|LRRC34_uc003ffz.2_Frame_Shift_Del_p.H205fs|LRRC34_uc003fga.3_Frame_Shift_Del_p.H205fs	NM_153353	NP_699184	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	221_222											0	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GCAACAAGACAGTGATTTTCTT	0.351		NA											20	214	---	---	---	---	NA	NA	NA	NA
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5365-01A-01D-1434-08	TCGA-CN-5365-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a419a54c-58b4-4682-aaca-ed85697dd2a0	59b70846-64f0-489e-8ea5-84a347aedeb8	g.chr6:31939825_31939826insG	uc003nyv.2	+	1	180_181	c.52_53insG	c.(52-54)CGGfs	p.R18fs	DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.2_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.1_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.2_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	serine/threonine kinase 19 isoform 2	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(4)	4						GCGACAGTGGCGGGCAAACCCC	0.634		NA											8	276	---	---	---	---	NA	NA	NA	NA
