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
TIE1	7075	broad.mit.edu	37	1	43777409	43777409	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:43777409G>A	uc001ciu.2	+	10	1480	c.1401G>A	c.(1399-1401)CCG>CCA	p.P467P	TIE1_uc010okd.1_Silent_p.P467P|TIE1_uc010oke.1_Silent_p.P422P|TIE1_uc009vwq.2_Silent_p.P423P|TIE1_uc010okf.1_Silent_p.P112P|TIE1_uc010okg.1_Silent_p.P112P	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	467	Extracellular (Potential).|Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGTCTCCCCGCTGGTCTCGT	0.647		NA											23	60					0	0	0	0
MPL	4352	broad.mit.edu	37	1	43804269	43804269	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:43804269G>A	uc001ciw.2	+	3	314	c.269G>A	c.(268-270)CGA>CAA	p.R90Q	MPL_uc001civ.2_Missense_Mutation_p.R90Q|MPL_uc009vwr.2_Missense_Mutation_p.R83Q	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	90	Extracellular (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTGGAACCCGATACGTGTGC	0.572		NA	Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						23	84					0	0	0	0
PAQR6	79957	broad.mit.edu	37	1	156214599	156214599	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:156214599G>T	uc001fnu.1	-	7	783	c.713C>A	c.(712-714)GCC>GAC	p.A238D	PAQR6_uc010phf.1_Intron|PAQR6_uc001fny.1_Missense_Mutation_p.P16T|PAQR6_uc001fnv.1_Missense_Mutation_p.A214D|PAQR6_uc010phg.1_Missense_Mutation_p.A235D|PAQR6_uc001fnx.1_Missense_Mutation_p.A132D|PAQR6_uc001fnw.1_Missense_Mutation_p.A132D|PAQR6_uc001fnz.1_Missense_Mutation_p.A132D|PAQR6_uc010phh.1_Missense_Mutation_p.A238D|PAQR6_uc001foa.1_Missense_Mutation_p.A132D|PAQR6_uc001fob.1_RNA	NM_198406	NP_940798	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	238	Helical; (Potential).					integral to membrane	receptor activity				0	Hepatocellular(266;0.158)					CAGGTGGGAGGCGAAGAGGAA	0.672		NA											15	42					0.00400662	0.00425967	1	0
OR2M3	127062	broad.mit.edu	37	1	248366532	248366532	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr1:248366532C>A	uc010pzg.1	+	1	163	c.163C>A	c.(163-165)CTC>ATC	p.L55I		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGACACCCAGCTCCACACCCC	0.557		NA											114	271					1.55e-57	1.82e-57	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702649	27702649	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:27702649C>T	uc001itu.2	-	1	649	c.531G>A	c.(529-531)CCG>CCA	p.P177P		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	177					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						CCGCCTTGGCCGGGCTCCCCA	0.637		NA											44	150					0	0	0	0
KNDC1	85442	broad.mit.edu	37	10	135003312	135003312	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr10:135003312G>A	uc001llz.1	+	9	1571	c.1570G>A	c.(1570-1572)GAA>AAA	p.E524K	KNDC1_uc001lma.1_Missense_Mutation_p.E459K	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	524	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCTGGTAACTGAAAAGGTACC	0.493		NA											5	25					0	0	0	0
OR51G1	79324	broad.mit.edu	37	11	4944867	4944867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:4944867C>A	uc010qyr.1	-	1	703	c.703G>T	c.(703-705)GAG>TAG	p.E235*		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGAGTCGCTCCTGGTGGGAG	0.552		NA											26	68					3.7e-22	4.33e-22	1	0
BTBD10	84280	broad.mit.edu	37	11	13410506	13410506	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:13410506C>A	uc001mkz.2	-	9	1557	c.1300G>T	c.(1300-1302)GAC>TAC	p.D434Y	BTBD10_uc010rcl.1_Missense_Mutation_p.D442Y|BTBD10_uc001mla.2_Missense_Mutation_p.D418Y|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.D386Y	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	434						nucleus					0				Epithelial(150;0.0214)		TGGGGAATGTCTGCTGCAGCT	0.488		NA											48	77					2.66e-43	3.13e-43	1	0
MS4A15	219995	broad.mit.edu	37	11	60531293	60531293	+	Silent	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:60531293G>T	uc009ynf.1	+	2	307	c.87G>T	c.(85-87)CTG>CTT	p.L29L	MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Silent_p.L29L	NM_001098835	NP_001092305	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member	29						integral to membrane	receptor activity			lung(1)	1						CGGCCATTCTGCCCACATCCA	0.617		NA											37	88					1.01e-15	1.18e-15	1	0
SCYL1	57410	broad.mit.edu	37	11	65303482	65303482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:65303482C>A	uc001oea.1	+	11	1522	c.1445C>A	c.(1444-1446)CCG>CAG	p.P482Q	SCYL1_uc009yqk.2_Missense_Mutation_p.P482Q|SCYL1_uc001oeb.1_Missense_Mutation_p.P482Q|SCYL1_uc001oec.1_Missense_Mutation_p.P482Q|SCYL1_uc001oed.1_Missense_Mutation_p.P339Q|SCYL1_uc001oee.1_Missense_Mutation_p.P126Q	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	482					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						CCGTTTGCACCGTCCCGGGTT	0.597		NA											18	63					4.72e-08	5.37e-08	1	0
RCE1	9986	broad.mit.edu	37	11	66612399	66612399	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:66612399G>A	uc001ojk.1	+	5	555	c.511G>A	c.(511-513)GCC>ACC	p.A171T	RCE1_uc001ojl.1_Missense_Mutation_p.A67T	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN	prenyl protein peptidase RCE1 isoform 1	171					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			ovary(1)|breast(1)	2						CCAAGTGATCGCCCCGCTGAC	0.632		NA											15	28					0	0	0	0
SYTL2	54843	broad.mit.edu	37	11	85420460	85420460	+	Silent	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:85420460A>G	uc010rth.1	-	12	2190	c.1914T>C	c.(1912-1914)TAT>TAC	p.Y638Y	SYTL2_uc010rtg.1_Silent_p.Y639Y|SYTL2_uc010rti.1_Silent_p.Y614Y|SYTL2_uc010rtj.1_Silent_p.Y606Y|SYTL2_uc001pav.2_Silent_p.Y80Y|SYTL2_uc010rte.1_Silent_p.Y40Y|SYTL2_uc001pax.2_Silent_p.Y80Y|SYTL2_uc001paz.2_5'UTR|SYTL2_uc001pba.2_Silent_p.Y23Y|SYTL2_uc001pay.2_Silent_p.Y69Y|SYTL2_uc001paw.2_Silent_p.Y40Y|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Silent_p.Y936Y|SYTL2_uc001pbb.2_Silent_p.Y976Y|SYTL2_uc001pbc.2_Silent_p.Y960Y|SYTL2_uc010rtf.1_Silent_p.Y456Y	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	638	C2 1.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTGACTCCACATATTCAATTG	0.408		NA											6	121					0	0	0	0
UBE4A	9354	broad.mit.edu	37	11	118263536	118263536	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr11:118263536G>A	uc001psw.2	+	19	3129	c.3000G>A	c.(2998-3000)CTG>CTA	p.L1000L	UBE4A_uc001psv.2_Silent_p.L1007L	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1000	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGAGCACACTGATGTGTGACC	0.483		NA											56	86					0	0	0	0
MLF2	8079	broad.mit.edu	37	12	6859160	6859160	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:6859160C>T	uc010sfi.1	-	7	476	c.413G>A	c.(412-414)CGG>CAG	p.R138Q	MLF2_uc001qqp.2_Missense_Mutation_p.R138Q|MLF2_uc009zey.1_Missense_Mutation_p.R138Q	NM_005439	NP_005430	Q15773	MLF2_HUMAN	myeloid leukemia factor 2	138					defense response	cytoplasm|nucleus	protein binding			large_intestine(1)	1						AACAGTCCTCCGTGTCTCCCG	0.582		NA											15	64					0	0	0	0
LRP6	4040	broad.mit.edu	37	12	12334328	12334328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:12334328C>T	uc001rah.3	-	6	1164	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R341H	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	341	Extracellular (Potential).|Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.R341H(1)		lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				CAAAGAAATGCGTCTCAAGTC	0.403		NA											34	81					0	0	0	0
PTPRO	5800	broad.mit.edu	37	12	15699542	15699542	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:15699542C>A	uc001rcv.1	+	13	2378	c.2204C>A	c.(2203-2205)ACC>AAC	p.T735N	PTPRO_uc001rcw.1_Missense_Mutation_p.T735N|PTPRO_uc001rcx.1_5'UTR|PTPRO_uc001rcy.1_5'UTR|PTPRO_uc001rcz.1_5'UTR|PTPRO_uc001rda.1_5'UTR	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	735	Fibronectin type-III 8.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				GTGAACAAAACCCAGACTTCA	0.388		NA											5	21					0.000602214	0.000648786	1	0
KRT83	3889	broad.mit.edu	37	12	52710276	52710276	+	Silent	SNP	G	G	A	rs143467763	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:52710276G>A	uc001saf.2	-	6	1080	c.1017C>T	c.(1015-1017)GCC>GCT	p.A339A		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	339	Rod.|Coil 2.				epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCCACCTCGGCTGTCAGCC	0.597		NA											33	50					0	0	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122975114	122975114	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr12:122975114C>T	uc001ucn.2	-	4	449	c.318G>A	c.(316-318)AAG>AAA	p.K106K	ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	106						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GATGATATTGCCTGTGTAAGA	0.328		NA											5	10					0	0	0	0
FREM2	341640	broad.mit.edu	37	13	39265211	39265211	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr13:39265211A>T	uc001uwv.2	+	1	4039	c.3730A>T	c.(3730-3732)AAT>TAT	p.N1244Y		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1244	CSPG 8.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCAGCTGATAAATGGCACGGT	0.438		NA											65	179					0	0	0	0
UCHL3	7347	broad.mit.edu	37	13	76134943	76134943	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr13:76134943A>G	uc001vjq.2	+	3	139	c.109A>G	c.(109-111)ATG>GTG	p.M37V	UCHL3_uc001vjr.2_Missense_Mutation_p.M1V	NM_006002	NP_005993	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3	37					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity				0				GBM - Glioblastoma multiforme(99;0.0125)		TGTATATGGAATGGATCCTGA	0.338		NA											25	75					0	0	0	0
CMTM5	116173	broad.mit.edu	37	14	23846483	23846483	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:23846483G>A	uc010akm.2	+	1	467	c.23G>A	c.(22-24)CGG>CAG	p.R8Q	CMTM5_uc001wjs.2_Missense_Mutation_p.R8Q|CMTM5_uc001wjt.2_Missense_Mutation_p.R8Q|CMTM5_uc010akn.2_Missense_Mutation_p.R8Q|CMTM5_uc001wju.2_Missense_Mutation_p.R8Q|CMTM5_uc010ako.2_RNA	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	chemokine-like factor superfamily 5 isoform a	8					chemotaxis	extracellular space|integral to membrane	cytokine activity				0	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CGAGATCGCCGGGACCGGCAC	0.607		NA											26	77					0	0	0	0
ADAM20	8748	broad.mit.edu	37	14	70989374	70989374	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:70989374G>A	uc001xme.2	-	2	2496	c.2251C>T	c.(2251-2253)CCT>TCT	p.P751S		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	701	Helical; (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GCAACCAAAGGAAGAAGGCAC	0.313		NA											36	74					0	0	0	0
BTBD7	55727	broad.mit.edu	37	14	93760396	93760396	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:93760396A>G	uc001ybo.2	-	3	1296	c.970T>C	c.(970-972)TAT>CAT	p.Y324H	BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.Y239H|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.Y239H|BTBD7_uc001ybr.2_Missense_Mutation_p.Y324H	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	324	BTB 2.									pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTGTTGCATATTTTTTTGGT	0.418		NA											3	69					0	0	0	0
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr14:105246551C>T	uc001ypk.2	-	3	603	c.49G>A	c.(49-51)GAG>AAG	p.E17K	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.E17K|AKT1_uc010axa.2_Missense_Mutation_p.E17K|AKT1_uc001ypm.2_Missense_Mutation_p.E17K|AKT1_uc001ypn.2_Missense_Mutation_p.E17K|AKT1_uc010tyk.1_5'Flank	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	E->K: Increase in basal ubiquitination, phosphorylation at T-308 and important increase in membrane recruitment. Decrease in ubiquitination, phosphorylation at T-308 as well as impaired association with the membrane; when associated with R-8.	activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(126)		breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		breast|colorectal|ovarian|NSCLC								8	19					0	0	0	0
OR4N4	283694	broad.mit.edu	37	15	22383350	22383350	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:22383350A>G	uc001yuc.1	+	7	1859	c.878A>G	c.(877-879)GAA>GGA	p.E293G	LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.E293G	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CGCAACCAGGAAGTGAAAACT	0.408		NA											16	140					0	0	0	0
MAP1A	4130	broad.mit.edu	37	15	43821897	43821897	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:43821897C>T	uc001zrt.2	+	5	8552	c.8085C>T	c.(8083-8085)CTC>CTT	p.L2695L		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2695						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATGTGGATCTCGCCTACATCC	0.517		NA											28	89					0	0	0	0
LPCAT2	54947	broad.mit.edu	37	16	55579722	55579722	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr16:55579722A>G	uc002eie.3	+	9	1109	c.928A>G	c.(928-930)ATG>GTG	p.M310V	LPCAT2_uc002eic.2_Missense_Mutation_p.M40V	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	310	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						CCGGAATTTAATGGCAGAGTA	0.299		NA											7	77					0	0	0	0
SMYD4	114826	broad.mit.edu	37	17	1704289	1704289	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:1704289C>T	uc002ftm.3	-	5	567	c.399G>A	c.(397-399)CAG>CAA	p.Q133Q	SMYD4_uc002ftn.1_5'UTR	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	133							zinc ion binding			skin(3)|kidney(2)	5						ACCCATGTGTCTGTGCTCTGT	0.443		NA											53	155					0	0	0	0
DNAH9	1770	broad.mit.edu	37	17	11778325	11778325	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:11778325C>T	uc002gne.2	+	53	10370	c.10302C>T	c.(10300-10302)GAC>GAT	p.D3434D	DNAH9_uc010coo.2_Silent_p.D2728D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3434	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGATGCTGACGTGGCTGCCT	0.592		NA											35	83					0	0	0	0
SUPT6H	6830	broad.mit.edu	37	17	27015218	27015218	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:27015218C>T	uc002hby.2	+	24	3206	c.3116C>T	c.(3115-3117)ACG>ATG	p.T1039M	SUPT6H_uc010crt.2_Missense_Mutation_p.T1039M|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1039					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					AAGATCGACACGGCCTCCCTG	0.577		NA											54	168					0	0	0	0
KRT13	3860	broad.mit.edu	37	17	39658663	39658663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:39658663C>T	uc002hwu.1	-	6	1270	c.1207G>A	c.(1207-1209)GCC>ACC	p.A403T	KRT13_uc002hwv.1_Missense_Mutation_p.A403T|KRT13_uc002hww.2_Missense_Mutation_p.A296T|KRT13_uc010wfr.1_Missense_Mutation_p.A296T|KRT13_uc010cxo.2_Missense_Mutation_p.A403T|KRT13_uc002hwx.1_Missense_Mutation_p.A391T	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	403	Rod.|Coil 2.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				CGGTAGGTGGCGATCTCCTGC	0.562		NA											48	103					0	0	0	0
CBX8	57332	broad.mit.edu	37	17	77769025	77769025	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr17:77769025C>T	uc002jxd.1	-	5	672	c.579G>A	c.(577-579)GGG>GGA	p.G193G		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	193					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCGAGCTGTCCCCCGGTGAGC	0.498		NA											3	19					0	0	0	0
LIPG	9388	broad.mit.edu	37	18	47110036	47110036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr18:47110036G>A	uc002ldv.2	+	8	1520	c.1268G>A	c.(1267-1269)TGG>TAG	p.W423*	LIPG_uc010xdh.1_Nonsense_Mutation_p.W349*	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	423	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						TCTCAGTCTTGGTACAACCTG	0.582		NA											24	73					0	0	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302992	15302992	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr19:15302992C>T	uc002nan.2	-	4	534	c.458G>A	c.(457-459)CGC>CAC	p.R153H	NOTCH3_uc002nao.1_Missense_Mutation_p.R153H	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	153	Extracellular (Potential).|EGF-like 3.		Missing (in CADASIL).|R -> C (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCGGCAGCTGCGGCCCTGGTA	0.687		NA											12	23					0	0	0	0
ZNF845	91664	broad.mit.edu	37	19	53854765	53854765	+	Silent	SNP	C	C	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr19:53854765C>A	uc010ydv.1	+	4	954	c.837C>A	c.(835-837)ACC>ACA	p.T279T	ZNF845_uc010ydw.1_Silent_p.T279T	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	279	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTGGCAAGACCTTCAGTCAGG	0.423		NA											18	58					2.49e-13	2.89e-13	1	0
C2orf16	84226	broad.mit.edu	37	2	27804538	27804538	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:27804538G>A	uc002rkz.3	+	1	5150	c.5099G>A	c.(5098-5100)AGG>AAG	p.R1700K	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1700	9.|27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CCCTCTCAGAGGAGCCATCGT	0.587		NA											8	237					0	0	0	0
RMND5A	64795	broad.mit.edu	37	2	86947840	86947840	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:86947840A>T	uc010ytm.1	+	1	427	c.50A>T	c.(49-51)AAG>ATG	p.K17M	RMND5A_uc002srs.3_Translation_Start_Site|VPS24_uc010ytl.1_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.K17M	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog	17										ovary(1)|skin(1)	2						GTGCTGCACAAGTTCTCAGGC	0.687		NA											4	1					0	0	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125175049	125175049	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:125175049C>G	uc002tno.2	+	4	775	c.411C>G	c.(409-411)AGC>AGG	p.S137R	CNTNAP5_uc010flu.2_Missense_Mutation_p.S137R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	137	F5/8 type C.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATGCTGACAGCGTGGTGCACC	0.488		NA											11	25					0	0	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125204332	125204332	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:125204332G>T	uc002tno.2	+	6	1100	c.736G>T	c.(736-738)GAC>TAC	p.D246Y	CNTNAP5_uc010flu.2_Missense_Mutation_p.D246Y	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	246	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTCACAGGTGACAGCAAAGC	0.567		NA											15	53					1.68e-08	1.92e-08	1	0
LRP1B	53353	broad.mit.edu	37	2	141598619	141598619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:141598619C>T	uc002tvj.1	-	30	5954	c.4982G>A	c.(4981-4983)CGT>CAT	p.R1661H		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1661	Extracellular (Potential).|LDL-receptor class B 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATAAATTACGTGACACCCA	0.373		NA								TSP Lung(27;0.18)			24	80					0	0	0	0
TMEM198	130612	broad.mit.edu	37	2	220412472	220412472	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr2:220412472C>T	uc002vme.2	+	4	996	c.411C>T	c.(409-411)TCC>TCT	p.S137S	TMEM198_uc002vmf.2_Silent_p.S137S	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	137	Leu-rich.					integral to membrane				ovary(1)	1		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCTGGGCTCCGCACCCTACT	0.716		NA											12	32					0	0	0	0
TGM3	7053	broad.mit.edu	37	20	2297758	2297758	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr20:2297758C>T	uc002wfx.3	+	6	811	c.714C>T	c.(712-714)AGC>AGT	p.S238S		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	238					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	GGAATTGGAGCGGCACTTACA	0.532		NA											32	91					0	0	0	0
PRPF6	24148	broad.mit.edu	37	20	62631039	62631039	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr20:62631039G>A	uc002yho.2	+	8	1118	c.950G>A	c.(949-951)CGC>CAC	p.R317H	PRPF6_uc002yhp.2_Missense_Mutation_p.R317H	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	317					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GCATCAGCCCGCCTGGAAGAA	0.557		NA											20	28					0	0	0	0
ELFN2	114794	broad.mit.edu	37	22	37769728	37769728	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr22:37769728C>T	uc003asq.3	-	3	2633	c.1847G>A	c.(1846-1848)CGC>CAC	p.R616H		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	616	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					GCTCAGCTGGCGCTGTAGTGG	0.682		NA											7	8					0	0	0	0
MORC1	27136	broad.mit.edu	37	3	108773723	108773723	+	Silent	SNP	G	G	A	rs7631480	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr3:108773723G>A	uc003dxl.2	-	14	1269	c.1182C>T	c.(1180-1182)GGC>GGT	p.G394G	MORC1_uc011bhn.1_Silent_p.G394G	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	394					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.G394G(1)		ovary(3)|skin(3)|breast(2)	8						CCACGCCTGCGCCAAGTCTGA	0.303		NA											22	57					0	0	0	0
XRN1	54464	broad.mit.edu	37	3	142103391	142103391	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr3:142103391G>T	uc003eus.2	-	21	2543	c.2476C>A	c.(2476-2478)CCT>ACT	p.P826T	XRN1_uc010huu.2_Missense_Mutation_p.P292T|XRN1_uc003eut.2_Missense_Mutation_p.P826T|XRN1_uc003euu.2_Missense_Mutation_p.P826T|XRN1_uc003euv.1_Missense_Mutation_p.P687T	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	826					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						TAAACAAAAGGAACAACTTGT	0.308		NA											26	89					1.85e-09	2.12e-09	1	0
TBC1D1	23216	broad.mit.edu	37	4	38023338	38023338	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:38023338G>C	uc003gtb.2	+	6	1552	c.1209G>C	c.(1207-1209)GAG>GAC	p.E403D	TBC1D1_uc011byd.1_Missense_Mutation_p.E403D|TBC1D1_uc010ifd.2_Missense_Mutation_p.E150D|TBC1D1_uc011byf.1_Missense_Mutation_p.E274D	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	403	PID.					nucleus	Rab GTPase activator activity			ovary(1)	1						AGAGGATAGAGGGTGAGTAGG	0.552		NA											3	20					0	0	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95155227	95155227	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:95155227C>T	uc003htc.3	+	4	746	c.491C>T	c.(490-492)ACT>ATT	p.T164I	SMARCAD1_uc003htb.3_Missense_Mutation_p.T164I|SMARCAD1_uc003htd.3_Missense_Mutation_p.T164I|SMARCAD1_uc010ila.2_Missense_Mutation_p.T27I	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	164	CUE 1.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		aaacttcagactttgaaggaa	0.144		NA											19	29					0	0	0	0
ADH4	127	broad.mit.edu	37	4	100062705	100062705	+	Silent	SNP	G	G	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr4:100062705G>T	uc003hun.2	-	3	325	c.249C>A	c.(247-249)ACC>ACA	p.T83T	uc003hum.1_Intron|ADH4_uc011ced.1_Silent_p.T102T	NM_000670	NP_000661	P08319	ADH4_HUMAN	class II alcohol dehydrogenase, pi subunit	83					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			skin(2)	2				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GTTTGACGTTGGTCACTCCTG	0.398		NA											21	42					0.00395357	0.00421436	1	0
BRD9	65980	broad.mit.edu	37	5	878568	878568	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:878568C>T	uc003jbq.2	-	11	1340	c.1173G>A	c.(1171-1173)TCG>TCA	p.S391S	BRD9_uc003jbl.2_Silent_p.S275S|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Silent_p.S338S|BRD9_uc003jbo.2_Silent_p.S295S|BRD9_uc003jbp.2_Silent_p.S52S|BRD9_uc011cmc.1_RNA	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	bromodomain containing 9 isoform 1	391							nucleic acid binding				0			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TATTCTGCATCGAAAGCGCAG	0.567		NA											9	124					0	0	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33549375	33549375	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:33549375G>A	uc003jia.1	-	21	4402	c.4239C>T	c.(4237-4239)CCC>CCT	p.P1413P	ADAMTS12_uc010iuq.1_Silent_p.P1328P	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1413	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TGCTCAATGGGGGAGGAATGC	0.612		NA								HNSCC(64;0.19)			24	59					0	0	0	0
RAI14	26064	broad.mit.edu	37	5	34824125	34824125	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:34824125C>T	uc003jir.2	+	15	2374	c.2178C>T	c.(2176-2178)AAC>AAT	p.N726N	RAI14_uc010iur.2_Silent_p.N697N|RAI14_uc011coj.1_Silent_p.N726N|RAI14_uc003jis.2_Silent_p.N729N|RAI14_uc003jit.2_Silent_p.N726N|RAI14_uc011cok.1_Silent_p.N718N	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	726	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					AAAAAGAGAACTCTGTCTCTA	0.408		NA											25	33					0	0	0	0
GPRIN1	114787	broad.mit.edu	37	5	176024594	176024594	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr5:176024594C>T	uc003meo.1	-	2	2417	c.2242G>A	c.(2242-2244)GTG>ATG	p.V748M		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	748						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCGGCTCCACGCGGCCTTCA	0.687		NA											7	19					0	0	0	0
CCHCR1	54535	broad.mit.edu	37	6	31112526	31112526	+	Missense_Mutation	SNP	C	C	T	rs111409280		TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:31112526C>T	uc003nsr.3	-	15	1961	c.1838G>A	c.(1837-1839)CGG>CAG	p.R613Q	CCHCR1_uc011dne.1_Missense_Mutation_p.R613Q|CCHCR1_uc003nsq.3_Missense_Mutation_p.R666Q|CCHCR1_uc003nsp.3_Missense_Mutation_p.R702Q|CCHCR1_uc010jsk.1_Missense_Mutation_p.R645Q	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	613	Potential.				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						GAGTTGCTCCCGCAGCCGAGT	0.597		NA											53	106					0	0	0	0
PHIP	55023	broad.mit.edu	37	6	79697996	79697996	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:79697996C>T	uc003pir.2	-	21	2616	c.2390G>A	c.(2389-2391)CGT>CAT	p.R797H	PHIP_uc011dyp.1_Missense_Mutation_p.R796H	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	797					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGATCTTGTACGATAATTGTG	0.338		NA											5	101					0	0	0	0
FOXO3	2309	broad.mit.edu	37	6	108984910	108984910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:108984910C>T	uc003psk.2	+	3	1190	c.874C>T	c.(874-876)CCT>TCT	p.P292S	FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Missense_Mutation_p.P292S|FOXO3_uc011ean.1_Missense_Mutation_p.P72S|FOXO3_uc010kdj.1_Missense_Mutation_p.P72S	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	292				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CTCCAAGTGGCCTGGCAGCCC	0.622		NA											4	32					0	0	0	0
IFNGR1	3459	broad.mit.edu	37	6	137527279	137527279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:137527279G>A	uc003qho.2	-	3	470	c.367C>T	c.(367-369)CGA>TGA	p.R123*	IFNGR1_uc011edm.1_Nonsense_Mutation_p.R95*|IFNGR1_uc011edn.1_Nonsense_Mutation_p.R113*	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	123	Extracellular (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TCACCATCTCGGCATACAGCA	0.348		NA											7	118					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152763322	152763322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:152763322G>A	uc010kiw.2	-	31	4498	c.3896C>T	c.(3895-3897)GCG>GTG	p.A1299V	SYNE1_uc003qot.3_Missense_Mutation_p.A1306V|SYNE1_uc003qou.3_Missense_Mutation_p.A1299V|SYNE1_uc010kjb.1_Missense_Mutation_p.A1282V|SYNE1_uc003qow.2_Missense_Mutation_p.A594V|SYNE1_uc003qox.1_Missense_Mutation_p.A815V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1299	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCCTGCTGCGCCTGCGCGAT	0.567		NA								HNSCC(10;0.0054)			22	91					0	0	0	0
C7orf57	136288	broad.mit.edu	37	7	48081064	48081064	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:48081064A>G	uc003toh.3	+	3	401	c.189A>G	c.(187-189)ATA>ATG	p.I63M	C7orf57_uc003toi.3_Translation_Start_Site	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	hypothetical protein LOC136288	63										ovary(1)	1						GATACTGGATAAAAGAAACAG	0.592		NA											13	18					0	0	0	0
RELN	5649	broad.mit.edu	37	7	103214639	103214639	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:103214639C>T	uc003vca.2	-	30	4571	c.4411G>A	c.(4411-4413)GGA>AGA	p.G1471R	RELN_uc010liz.2_Missense_Mutation_p.G1471R	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1471					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCCAGTTCCAACCTGGGCA	0.512		NA											8	123					0	0	0	0
EPHB6	2051	broad.mit.edu	37	7	142563798	142563798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr7:142563798G>A	uc011kst.1	+	9	1973	c.1186G>A	c.(1186-1188)GGG>AGG	p.G396R	EPHB6_uc011ksu.1_Missense_Mutation_p.G396R|EPHB6_uc003wbs.2_Missense_Mutation_p.G104R|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Missense_Mutation_p.G104R|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	396	Extracellular (Potential).|Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					TCGGGAGCTGGGGGGTCGAGG	0.652		NA											7	19					0	0	0	0
HR	55806	broad.mit.edu	37	8	21973915	21973915	+	Silent	SNP	G	G	A			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr8:21973915G>A	uc003xas.2	-	18	4070	c.3405C>T	c.(3403-3405)AGC>AGT	p.S1135S	HR_uc003xat.2_Silent_p.S1080S	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	1135	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCTGAGTGACGCTGACTGTGC	0.627		NA											9	26					0	0	0	0
KLF10	7071	broad.mit.edu	37	8	103664557	103664557	+	Silent	SNP	C	C	T			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr8:103664557C>T	uc011lhk.1	-	2	259	c.105G>A	c.(103-105)GAG>GAA	p.E35E	KLF10_uc011lhj.1_Silent_p.E24E	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	35					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			AATCACTTTTCTCTGCAGTTT	0.358		NA											53	130					0	0	0	0
GRIN1	2902	broad.mit.edu	37	9	140058119	140058119	+	Silent	SNP	C	C	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr9:140058119C>G	uc004clk.2	+	17	2772	c.2442C>G	c.(2440-2442)GCC>GCG	p.A814A	GRIN1_uc004cli.1_Silent_p.A489A|GRIN1_uc004clj.1_Silent_p.A811A|GRIN1_uc004cll.2_Silent_p.A814A|GRIN1_uc004clm.2_Silent_p.A814A|GRIN1_uc004cln.2_Silent_p.A832A|GRIN1_uc004clo.2_Silent_p.A832A	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	814	Helical; (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AGAACATGGCCGGTGCGTTCT	0.597		NA											13	40					0	0	0	0
ASMT	438	broad.mit.edu	37	X	1755398	1755398	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chrX:1755398G>C	uc004cqd.2	+	9	1000	c.855G>C	c.(853-855)TGG>TGC	p.W285C	ASMT_uc010ncy.2_Missense_Mutation_p.W285C|ASMT_uc004cqe.2_Missense_Mutation_p.W210C	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	257					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCATGACTGGGCAGACGGAA	0.567		NA											56	143					0	0	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857876	101857876	+	Silent	SNP	T	T	G			TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chrX:101857876T>G	uc004ejg.2	+	6	1688	c.807T>G	c.(805-807)CCT>CCG	p.P269P	ARMCX5_uc004ejh.2_Silent_p.P269P	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	269							binding			ovary(1)	1						AGATCCCACCTTATCATGGGC	0.488		NA											45	42					0	0	0	0
MYO9A	4649	broad.mit.edu	37	15	72186069	72186071	+	In_Frame_Del	DEL	TCT	TCT	-	rs150726107	byFrequency	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr15:72186069_72186071delTCT	uc002atl.3	-	26	5564_5566	c.5091_5093delAGA	c.(5089-5094)GAAGAT>GAT	p.E1697del	MYO9A_uc002atn.1_In_Frame_Del_p.E1678del|MYO9A_uc002atk.2_In_Frame_Del_p.E421del|MYO9A_uc002atm.1_In_Frame_Del_p.E421del	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	1697	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						TGCTGGTTCATCTTCTTTATGGA	0.355		NA											20	55	---	---	---	---	NA	NA	NA	NA
SLC22A16	85413	broad.mit.edu	37	6	110763501	110763509	+	In_Frame_Del	DEL	AAAACGAGT	AAAACGAGT	-	rs149948718	by1000genomes	TCGA-CV-5443-01A-01D-1512-08	TCGA-CV-5443-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9d279797-4464-4ef5-8858-640978ccc258	a5384389-3040-4d43-be4e-4794a870ce18	g.chr6:110763501_110763509delAAAACGAGT	uc003puf.2	-	4	1188_1196	c.1121_1129delACTCGTTTT	c.(1120-1131)TACTCGTTTTCC>TCC	p.YSF374del	SLC22A16_uc003pue.2_In_Frame_Del_p.YSF355del	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	374_376	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)		GAATTCAAGGAAAACGAGTAGAATCCCAA	0.378		NA											13	76	---	---	---	---	NA	NA	NA	NA
