Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
KAZ	23254	broad.mit.edu	37	1	15361331	15361331	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:15361331C>T	uc001avm.3	+	3	786	c.505C>T	c.(505-507)CGC>TGC	p.R169C	KAZ_uc009vog.1_Missense_Mutation_p.R169C|KAZ_uc010obj.1_Missense_Mutation_p.R169C|KAZ_uc001avo.2_Missense_Mutation_p.R163C|KAZ_uc001avp.2_Missense_Mutation_p.R75C|KAZ_uc001avq.2_Missense_Mutation_p.R75C|KAZ_uc001avr.2_Missense_Mutation_p.R72C	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	169	Potential.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						ACTGGAGAGCCGCGAGGAGCA	0.617		NA											6	54					0	0	0	0
HSPG2	3339	broad.mit.edu	37	1	22186712	22186712	+	Missense_Mutation	SNP	C	C	T	rs143523507		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:22186712C>T	uc001bfj.2	-	40	5012	c.4972G>A	c.(4972-4974)GTG>ATG	p.V1658M	HSPG2_uc009vqd.2_Missense_Mutation_p.V1659M	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1658	Laminin EGF-like 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGTTACCCACGTAACCTGGG	0.637		NA											4	26					0	0	0	0
TGFB2	7042	broad.mit.edu	37	1	218609454	218609454	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:218609454G>A	uc001hlm.2	+	5	1550	c.897G>A	c.(895-897)CGG>CGA	p.R299R	TGFB2_uc001hln.2_Silent_p.R327R|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 2	299					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CCAACCGGCGGAAGAAGCGTG	0.433		NA											6	70					0	0	0	0
OR2T33	391195	broad.mit.edu	37	1	248436658	248436658	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:248436658G>A	uc010pzi.1	-	1	459	c.459C>T	c.(457-459)GAC>GAT	p.D153D		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAGGAGCCCGTCAGCTGCAC	0.587		NA											9	118					0	0	0	0
MYST4	23522	broad.mit.edu	37	10	76789551	76789551	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr10:76789551G>C	uc001jwn.1	+	18	5462	c.4969G>C	c.(4969-4971)GAT>CAT	p.D1657H	MYST4_uc001jwo.1_Missense_Mutation_p.D1365H|MYST4_uc001jwp.1_Missense_Mutation_p.D1474H	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1657	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					ATCAGTTTCAGATCATTCACA	0.473		NA	T	CREBBP	AML								5	100					0	0	0	0
OR52E2	119678	broad.mit.edu	37	11	5080386	5080386	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:5080386C>T	uc010qyw.1	-	1	472	c.472G>A	c.(472-474)GTC>ATC	p.V158I		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGGGAATGACGAAAATTAAA	0.453		NA											4	20					0	0	0	0
CHST1	8534	broad.mit.edu	37	11	45671747	45671747	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:45671747G>A	uc001mys.1	-	4	1398	c.727C>T	c.(727-729)CGC>TGC	p.R243C		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	243	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GTCTCGCTGCGCGAAGCCAGA	0.657		NA											4	66					0	0	0	0
OR8J3	81168	broad.mit.edu	37	11	55904529	55904529	+	Silent	SNP	A	A	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:55904529A>T	uc010riz.1	-	1	666	c.666T>A	c.(664-666)GTT>GTA	p.V222V		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					GAATGGACAAAACAATATTGA	0.373		NA											5	89					0	0	0	0
BBS1	582	broad.mit.edu	37	11	66278499	66278499	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:66278499G>A	uc001oij.1	+	2	75	c.63G>A	c.(61-63)TCG>TCA	p.S21S	BBS1_uc001oii.1_Silent_p.S58S|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Silent_p.S21S|BBS1_uc001oik.1_5'UTR|BBS1_uc001oil.1_Silent_p.S21S	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	21					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						AGGCCAATTCGAAGTGGTTGG	0.517		NA							Bardet-Biedl_syndrome				19	210					0	0	0	0
IGSF9B	22997	broad.mit.edu	37	11	133791120	133791120	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:133791120C>T	uc001qgx.3	-	18	2731	c.2500G>A	c.(2500-2502)GTG>ATG	p.V834M		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	834	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCTTGGCCACGCTGTACTTC	0.657		NA											3	40					0	0	0	0
KCNA6	3742	broad.mit.edu	37	12	4920108	4920108	+	Silent	SNP	T	T	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:4920108T>C	uc001qng.2	+	1	1767	c.901T>C	c.(901-903)TTG>CTG	p.L301L		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	301	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						CATCATTGACTTGGTGGCTAT	0.582		NA								HNSCC(72;0.22)			23	63					0	0	0	0
PZP	5858	broad.mit.edu	37	12	9318713	9318713	+	Silent	SNP	C	C	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:9318713C>A	uc001qvl.2	-	18	2222	c.2193G>T	c.(2191-2193)GGG>GGT	p.G731G	PZP_uc009zgl.2_Silent_p.G600G|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Silent_p.G63G	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						CAGGGACTGGCCCTGAACTTT	0.428		NA											14	104					6.32e-08	7.04e-08	1	0
TMEM120B	144404	broad.mit.edu	37	12	122211410	122211410	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:122211410C>G	uc001ubc.3	+	9	907	c.763C>G	c.(763-765)CTC>GTC	p.L255V	TMEM120B_uc009zxh.2_Missense_Mutation_p.L255V|TMEM120B_uc001uba.1_5'Flank	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	transmembrane protein 120B	255						integral to membrane					0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CCACCTGGATCTCACAGTGGG	0.652		NA									OREG0022206	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	18					0	0	0	0
PITPNM2	57605	broad.mit.edu	37	12	123482002	123482002	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:123482002C>T	uc001uej.1	-	10	1481	c.1342G>A	c.(1342-1344)GAT>AAT	p.D448N	PITPNM2_uc001uek.1_Missense_Mutation_p.D448N	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	448					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGTTAGCATCGCCCTTCTTG	0.682		NA											12	89					0	0	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74368258	74368258	+	Silent	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr15:74368258C>T	uc002axa.1	-	8	674	c.633G>A	c.(631-633)CTG>CTA	p.L211L		NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	golgi autoantigen, golgin subfamily a, 6	211	Potential.										0						CGTGTGCGTTCAGCAGCGCCC	0.582		NA											5	76					0	0	0	0
ABCC11	85320	broad.mit.edu	37	16	48211016	48211016	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr16:48211016G>A	uc002eff.1	-	24	3707	c.3357C>T	c.(3355-3357)GTC>GTT	p.V1119V	ABCC11_uc002efg.1_Silent_p.V1119V|ABCC11_uc002efh.1_Silent_p.V1119V|ABCC11_uc010cbg.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1119	Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GAGCTTCCGAGACACACATCT	0.483		NA							Cerumen_Type				5	54					0	0	0	0
HIC1	3090	broad.mit.edu	37	17	1960080	1960080	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:1960080C>G	uc010cjy.2	+	2	153	c.153C>G	c.(151-153)ATC>ATG	p.I51M	HIC1_uc002fty.3_Missense_Mutation_p.I32M|HIC1_uc002ftz.3_Missense_Mutation_p.I32M	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	51	BTB.				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		ACGTGATCATCGTGGTGCAGA	0.632		NA											5	30					0	0	0	0
ZNF232	7775	broad.mit.edu	37	17	5012303	5012303	+	Silent	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:5012303C>T	uc002gas.2	-	4	1216	c.462G>A	c.(460-462)GAG>GAA	p.E154E	ZNF232_uc002gar.1_Silent_p.E181E|ZNF232_uc002gat.2_Silent_p.E181E|ZNF232_uc010vsv.1_3'UTR	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	154					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						ATTCCTTCTTCTCCCATGGCT	0.498		NA											12	150					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578247	7578247	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:7578247A>T	uc002gim.2	-	6	796	c.602T>A	c.(601-603)TTG>TAG	p.L201*	TP53_uc002gig.1_Nonsense_Mutation_p.L201*|TP53_uc002gih.2_Nonsense_Mutation_p.L201*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.L69*|TP53_uc010cng.1_Nonsense_Mutation_p.L69*|TP53_uc002gii.1_Nonsense_Mutation_p.L69*|TP53_uc010cnh.1_Nonsense_Mutation_p.L201*|TP53_uc010cni.1_Nonsense_Mutation_p.L201*|TP53_uc002gij.2_Nonsense_Mutation_p.L201*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.L108*|TP53_uc002gio.2_Nonsense_Mutation_p.L69*|TP53_uc010vug.1_Nonsense_Mutation_p.L162*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	201	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (in a sporadic cancer; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; 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.0?(7)|p.L201F(7)|p.L201fs*46(4)|p.K164_P219del(1)|p.E198_L201>V(1)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*8(1)|p.P191fs*6(1)|p.L201_R202>FC(1)|p.L201L(1)|p.G199fs*42(1)|p.L201*(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)		CTCCACACGCAAATTTCCTTC	0.552		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)			10	43					0	0	0	0
NF1	4763	broad.mit.edu	37	17	29557872	29557872	+	Silent	SNP	A	A	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:29557872A>G	uc002hgg.2	+	24	3459	c.3126A>G	c.(3124-3126)GTA>GTG	p.V1042V	NF1_uc002hgh.2_Silent_p.V1042V|NF1_uc010csn.1_Silent_p.V902V|NF1_uc002hgi.1_Silent_p.V75V	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1042					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATAAGATGGTAGAATACCTGA	0.368		NA	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	34					0	0	0	0
PITPNC1	26207	broad.mit.edu	37	17	65548417	65548417	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:65548417A>G	uc002jgc.2	+	3	589	c.242A>G	c.(241-243)TAT>TGT	p.Y81C	PITPNC1_uc002jgb.2_Missense_Mutation_p.Y81C	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein,	81					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			skin(1)	1	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AAAATATTTTATGTGACAGAG	0.413		NA											8	63					0	0	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913429	39913429	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:39913429G>A	uc010xuz.1	+	18	2060	c.1735G>A	c.(1735-1737)GAA>AAA	p.E579K	PLEKHG2_uc010xuy.1_Missense_Mutation_p.E520K|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.E357K	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	579					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGCGACAGCGAAACCCTCAC	0.587		NA											4	57					0	0	0	0
FGF21	26291	broad.mit.edu	37	19	49261276	49261276	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:49261276G>A	uc002pkn.1	+	4	1001	c.429G>A	c.(427-429)CCG>CCA	p.P143P	FUT1_uc002pkk.2_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.P143P	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21 precursor	143					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ACGGCCTCCCGCTGCACCTGC	0.652		NA											21	89					0	0	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55623923	55623923	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:55623923G>A	uc002qix.2	-	3	499	c.483C>T	c.(481-483)GCC>GCT	p.A161A	PPP1R12C_uc010yfs.1_Silent_p.A87A|PPP1R12C_uc002qiy.2_Silent_p.A161A	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	161	ANK 2.					cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TGTTGACGGCGGCGATGTTGG	0.731		NA											10	20					0	0	0	0
C19orf51	352909	broad.mit.edu	37	19	55670503	55670503	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:55670503G>A	uc002qji.1	-	12	1587	c.1553C>T	c.(1552-1554)TCA>TTA	p.S518L	TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.S333L|C19orf51_uc002qjj.1_Missense_Mutation_p.S565L|C19orf51_uc002qjk.1_Missense_Mutation_p.S464L|C19orf51_uc002qjl.1_Missense_Mutation_p.S585L			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	518											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGAACCTCTGAGAGTGAACC	0.627		NA											8	47					0	0	0	0
NLRP4	147945	broad.mit.edu	37	19	56369450	56369450	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:56369450G>A	uc002qmd.3	+	3	1113	c.691G>A	c.(691-693)GAC>AAC	p.D231N	NLRP4_uc002qmf.2_Missense_Mutation_p.D156N|NLRP4_uc010etf.2_Missense_Mutation_p.D62N	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	231	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTTCGTCATCGACAGCTTCGA	0.547		NA											7	92					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179659934	179659934	+	Silent	SNP	A	A	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr2:179659934A>G	uc010zfg.1	-	7	1184	c.960T>C	c.(958-960)TCT>TCC	p.S320S	TTN_uc010zfh.1_Silent_p.S320S|TTN_uc010zfi.1_Silent_p.S320S|TTN_uc010zfj.1_Silent_p.S320S|TTN_uc002unb.2_Silent_p.S320S|TTN_uc010frg.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	320							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGACCTAACAGACCTGATGG	0.547		NA											10	60					0	0	0	0
ARMC9	80210	broad.mit.edu	37	2	232081457	232081457	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr2:232081457C>T	uc002vrq.3	+	5	567	c.455C>T	c.(454-456)CCT>CTT	p.P152L	ARMC9_uc002vrp.3_Missense_Mutation_p.P152L	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	152							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TATGCCCTTCCTTTTGTTCCC	0.463		NA											9	141					0	0	0	0
JAG1	182	broad.mit.edu	37	20	10626068	10626068	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:10626068G>A	uc002wnw.2	-	16	2565	c.2049C>T	c.(2047-2049)CGC>CGT	p.R683R	JAG1_uc010gcd.1_Silent_p.R241R	NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	683	EGF-like 12; calcium-binding (Potential).|Extracellular (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						TGACCAGGTCGCGACACGTGC	0.502		NA							Alagille_Syndrome				18	89					0	0	0	0
PHF20	51230	broad.mit.edu	37	20	34519268	34519268	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:34519268G>C	uc002xek.1	+	15	2313	c.2202G>C	c.(2200-2202)CAG>CAC	p.Q734H		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					ACTCCCATCAGAATGCCAAGA	0.517		NA											7	79					0	0	0	0
PHF20	51230	broad.mit.edu	37	20	34519277	34519277	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:34519277G>A	uc002xek.1	+	15	2322	c.2211G>A	c.(2209-2211)AAG>AAA	p.K737K		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					AGAATGCCAAGAAGATCGTGG	0.522		NA											7	81					0	0	0	0
C20orf85	128602	broad.mit.edu	37	20	56728608	56728608	+	Missense_Mutation	SNP	G	G	A	rs16984945	byFrequency	TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:56728608G>A	uc002xyv.2	+	2	115	c.77G>A	c.(76-78)CGT>CAT	p.R26H		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	hypothetical protein LOC128602	26										ovary(1)	1	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AGGAAATACCGTCTGAAGGCT	0.483		NA											21	173					0	0	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666941	19666941	+	Missense_Mutation	SNP	G	G	A	rs140721787		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr21:19666941G>A	uc002ykw.2	-	20	2321	c.2290C>T	c.(2290-2292)CGG>TGG	p.R764W		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	764	Extracellular (Potential).|SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						CACTGTAACCGAATCAAGGAA	0.284		NA											7	101					0	0	0	0
CCDC116	164592	broad.mit.edu	37	22	21989343	21989343	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:21989343G>A	uc002zve.2	+	4	1084	c.991G>A	c.(991-993)GAC>AAC	p.D331N	CCDC116_uc011aih.1_Missense_Mutation_p.D331N	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	331										ovary(1)|skin(1)	2	Colorectal(54;0.105)					CCACTGCCGCGACGGCCGTCC	0.657		NA											6	41					0	0	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964720	37964720	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:37964720G>C	uc003asz.3	+	3	1472	c.1069G>C	c.(1069-1071)GAG>CAG	p.E357Q		NM_152243	NP_689449	Q00587	BORG5_HUMAN	CDC42 effector protein 1	357					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding				0	Melanoma(58;0.0574)					CCTGGACGAAGAGTGGAGGGC	0.647		NA											4	3					0	0	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257532	41257532	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:41257532C>T	uc003azj.2	-	1	599	c.467G>A	c.(466-468)GGA>GAA	p.G156E	XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	156					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)	1						TGATGTATATCCTGTATCATA	0.398		NA											13	166					0	0	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720062	50720062	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:50720062G>A	uc003bkv.3	-	21	3561	c.3455C>T	c.(3454-3456)CCG>CTG	p.P1152L	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Missense_Mutation_p.P137L	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1152	Extracellular (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCACCTCCGGGGGCTCACA	0.677		NA											3	38					0	0	0	0
NR2C2	7182	broad.mit.edu	37	3	15079580	15079580	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:15079580G>A	uc003bzj.3	+	12	1663	c.1446G>A	c.(1444-1446)ATG>ATA	p.M482I	NR2C2_uc003bzi.2_Missense_Mutation_p.M501I	NM_003298	NP_003289	P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	482	Ligand-binding (By similarity).				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						GTAACAGCATGGCGAAGCTGG	0.463		NA											5	101					0	0	0	0
MORC1	27136	broad.mit.edu	37	3	108688549	108688549	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:108688549C>G	uc003dxl.2	-	26	2658	c.2571G>C	c.(2569-2571)CAG>CAC	p.Q857H	MORC1_uc011bhn.1_Missense_Mutation_p.Q836H	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	857					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						TTTTGTTCATCTGCTCTGGGC	0.363		NA											5	101					0	0	0	0
HCLS1	3059	broad.mit.edu	37	3	121363742	121363742	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:121363742C>G	uc003eeh.3	-	5	447	c.322G>C	c.(322-324)GAG>CAG	p.E108Q	HCLS1_uc011bjj.1_Missense_Mutation_p.E108Q|HCLS1_uc011bjk.1_RNA|HCLS1_uc011bjl.1_Missense_Mutation_p.E108Q	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	108	Cortactin 1.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)		GAGTGCTTCTCCACCTCGGCA	0.463		NA											20	129					0	0	0	0
PLOD2	5352	broad.mit.edu	37	3	145788905	145788905	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:145788905C>T	uc003evs.1	-	18	2488	c.1982G>A	c.(1981-1983)CGT>CAT	p.R661H	PLOD2_uc003evq.1_Missense_Mutation_p.R342H|PLOD2_uc011bnm.1_Missense_Mutation_p.R627H|PLOD2_uc003evr.1_Missense_Mutation_p.R682H	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	661	Fe2OG dioxygenase.				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	ACGAAGAGAACGCTGTCGTTC	0.348		NA											6	34					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (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).|E -> Q (in cancer).		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.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		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)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	50					0	0	0	0
SLC4A4	8671	broad.mit.edu	37	4	72425867	72425867	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr4:72425867C>A	uc003hfy.2	+	23	3112	c.2995C>A	c.(2995-2997)CTC>ATC	p.L999I	SLC4A4_uc010iic.2_Missense_Mutation_p.L999I|SLC4A4_uc010iib.2_Missense_Mutation_p.L915I|SLC4A4_uc003hfz.2_Missense_Mutation_p.L999I|SLC4A4_uc003hgc.3_Missense_Mutation_p.L955I|SLC4A4_uc010iid.2_Missense_Mutation_p.L203I	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	999	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCAGCACGACCTCAGCTTCCT	0.348		NA											24	109					3.99e-17	4.58e-17	1	0
ERAP2	64167	broad.mit.edu	37	5	96222495	96222495	+	Splice_Site	SNP	T	T	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr5:96222495T>A	uc003kmq.2	+	4	1559	c.849_splice	c.e4+2	p.K283_splice	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Splice_Site_p.K283_splice|ERAP2_uc003kmr.2_Splice_Site|ERAP2_uc003kms.2_Intron|ERAP2_uc003kmu.2_Splice_Site	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2						antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGGGTCAAGGTGAGACTGAGT	0.378		NA											12	77					0	0	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595010	140595010	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr5:140595010G>A	uc003lja.1	+	1	1502	c.1315G>A	c.(1315-1317)GTG>ATG	p.V439M		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	439	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATATGACCGTGCTGATCGC	0.547		NA											18	102					0	0	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899722	4899722	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr7:4899722C>G	uc003snk.2	-	1	1904	c.1720G>C	c.(1720-1722)GAA>CAA	p.E574Q	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	573					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAGGAAAATTCAGTAGCCTGT	0.458		NA											5	53					0	0	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102040012	102040012	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr7:102040012G>A	uc003uzh.2	+	3	278	c.223G>A	c.(223-225)GGC>AGC	p.G75S	PRKRIP1_uc003uzf.2_Missense_Mutation_p.G24S|PRKRIP1_uc003uzg.2_Missense_Mutation_p.G24S|PRKRIP1_uc011kkq.1_Missense_Mutation_p.G18S|PRKRIP1_uc011kkr.1_Missense_Mutation_p.G75S	NM_024653	NP_078929	Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	75	Required for RNA-binding (By similarity).					nucleolus				ovary(1)	1						TGCTGGGGCCGGCAGTGGAGA	0.512		NA											19	115					0	0	0	0
CALD1	800	broad.mit.edu	37	7	134644737	134644737	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr7:134644737G>A	uc003vrz.2	+	12	2533	c.2074G>A	c.(2074-2076)GCA>ACA	p.A692T	CALD1_uc003vry.2_Missense_Mutation_p.A437T|CALD1_uc003vsa.2_Missense_Mutation_p.A463T|CALD1_uc003vsb.2_Missense_Mutation_p.A437T|CALD1_uc010lmm.2_Missense_Mutation_p.A462T|CALD1_uc011kpt.1_Missense_Mutation_p.A211T|CALD1_uc003vsc.2_Missense_Mutation_p.A457T|CALD1_uc003vsd.2_Missense_Mutation_p.A431T|CALD1_uc011kpu.1_Missense_Mutation_p.A442T|CALD1_uc011kpv.1_Missense_Mutation_p.A301T|CALD1_uc003vse.2_Missense_Mutation_p.A555T|CALD1_uc010lmn.2_RNA	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	692					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						AACAAAAAGCGCAAAACCTAC	0.418		NA											3	40					0	0	0	0
IKBKB	3551	broad.mit.edu	37	8	42147786	42147786	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr8:42147786C>G	uc003xow.1	+	4	490	c.313C>G	c.(313-315)CGG>GGG	p.R105G	IKBKB_uc003xov.2_Missense_Mutation_p.R105G|IKBKB_uc010lxh.1_Intron|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Intron|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.R103G|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.R46G	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	105	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGGAGATCTCCGGAAGGTGAG	0.612		NA											4	13					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971110	21971110	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr9:21971110T>C	uc003zpk.2	-	2	460	c.248A>G	c.(247-249)CAC>CGC	p.H83R	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.A138A	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	83	ANK 3.		H -> N (in a lung tumor).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.H83Y(27)|p.?(13)|p.H83fs*2(2)|p.H83P(2)|p.H83N(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.H83Q(1)|p.H83R(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCAGCGTCGTGCACGGGTCG	0.741		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	14					0	0	0	0
CLCN4	1183	broad.mit.edu	37	X	10201608	10201608	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:10201608C>A	uc004csy.3	+	13	2697	c.2267C>A	c.(2266-2268)TCC>TAC	p.S756Y	CLCN4_uc011mid.1_Missense_Mutation_p.S662Y	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	756	Cytoplasmic (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						GACCCCGAATCCATCATGTTT	0.358		NA											6	86					0.00198382	0.00206261	1	0
HUWE1	10075	broad.mit.edu	37	X	53570870	53570870	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:53570870C>T	uc004dsp.2	-	73	11713	c.11311G>A	c.(11311-11313)GAG>AAG	p.E3771K	HUWE1_uc004dsn.2_Missense_Mutation_p.E2579K|HUWE1_uc004dsq.1_Missense_Mutation_p.E86K	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3771					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GCATCAGCCTCAGCCTCCAGC	0.517		NA											4	19					0	0	0	0
WNK3	65267	broad.mit.edu	37	X	54335724	54335724	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:54335724C>T	uc004dtd.1	-	4	1174	c.735G>A	c.(733-735)ATG>ATA	p.M245I	WNK3_uc004dtc.1_Missense_Mutation_p.M245I	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	245	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						CCTTTGGTTTCATGACTTTAA	0.368		NA											5	48					0	0	0	0
HEPH	9843	broad.mit.edu	37	X	65411985	65411985	+	Silent	SNP	A	A	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:65411985A>C	uc011moz.1	+	7	1146	c.1086A>C	c.(1084-1086)GCA>GCC	p.A362A	HEPH_uc004dwn.2_Silent_p.A362A|HEPH_uc004dwo.2_Silent_p.A92A|HEPH_uc010nkr.2_Silent_p.A362A|HEPH_uc011mpa.1_Silent_p.A362A	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	359	Extracellular (Potential).|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GCATGCAGGCACTCTACAAGG	0.488		NA											13	52					0	0	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004645	102004645	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:102004645C>A	uc010nog.2	+	4	1293	c.722C>A	c.(721-723)GCA>GAA	p.A241E	BHLHB9_uc011mrq.1_Missense_Mutation_p.A241E|BHLHB9_uc011mrr.1_Missense_Mutation_p.A241E|BHLHB9_uc011mrs.1_Missense_Mutation_p.A241E|BHLHB9_uc011mrt.1_Missense_Mutation_p.A241E|BHLHB9_uc004ejo.2_Missense_Mutation_p.A241E|BHLHB9_uc011mru.1_Missense_Mutation_p.A241E|BHLHB9_uc011mrv.1_Missense_Mutation_p.A241E	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	241						cytoplasm|nucleus	binding			ovary(2)	2						CCATCTGAGGCAAGCCCTCCT	0.517		NA											16	151					6.32e-08	7.04e-08	1	0
SEPT6	23157	broad.mit.edu	37	X	118797579	118797579	+	Silent	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:118797579C>T	uc004erv.2	-	3	472	c.207G>A	c.(205-207)GGG>GGA	p.G69G	SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Silent_p.G69G|SEPT6_uc004ert.2_Silent_p.G69G|SEPT6_uc004eru.2_Silent_p.G69G|SEPT6_uc004erw.2_Silent_p.G11G|SEPT6_uc011mtv.1_Silent_p.G11G|SEPT6_uc011mtw.1_Silent_p.G99G	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	69					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			lung(1)|ovary(1)|prostate(1)|kidney(1)	4						TGGCTGGCTCCCCTTCGAATT	0.473		NA											73	289					0	0	0	0
VBP1	7411	broad.mit.edu	37	X	154467052	154467052	+	Splice_Site	SNP	G	G	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:154467052G>C	uc004fnc.2	+	6	583	c.524_splice	c.e6-1	p.N175_splice	VBP1_uc004fnd.2_Splice_Site_p.N138_splice	NM_003372	NP_003363	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1						'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATTCTTGCAGATATGGCCAG	0.338		NA											10	191					0	0	0	0