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	ACHILLES_Top_Genes	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	pox_cutoff	isArtifactMode	oxoGCut
SPEN	23013	broad.mit.edu	37	1	16260282	16260282	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:16260282C>T	uc001axk.1	+	11	7751	c.7547C>T	c.(7546-7548)CCA>CTA	p.P2516L	SPEN_uc010obp.1_Missense_Mutation_p.P2475L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2516	RID.|Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACTCCATCTCCAGCTCTTCCC	0.582			NA											96	338					0	0	0.01441	0	0
GRHL3	57822	broad.mit.edu	37	1	24663569	24663569	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:24663569C>T	uc001biy.2	+	5	675	c.629C>T	c.(628-630)TCG>TTG	p.S210L	GRHL3_uc001bix.2_Missense_Mutation_p.S205L|GRHL3_uc001biz.2_Missense_Mutation_p.S112L	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	205					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TCTCTGCAGTCGATGCTCTTC	0.438			NA											19	34					0	0	0.010504	0	0
AIM1L	55057	broad.mit.edu	37	1	26655271	26655271	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:26655271C>T	uc001bmd.3	-	15	1703	c.1273G>A	c.(1273-1275)GAG>AAG	p.E425K		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	425	Beta/gamma crystallin 'Greek key' 9.						sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TTGAAGCCCTCGGCTTGCAGG	0.602			NA											6	204					0	0	0.001168	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120493	46120493	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:46120493G>A	uc001coq.2	-	6	1560	c.199C>T	c.(199-201)CAC>TAC	p.H67Y		NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GAGGGCTGGTGCCAAGAATCT	0.463			NA											16	48					0	0	0.00499	0	0
C1orf173	127254	broad.mit.edu	37	1	75038612	75038612	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:75038612A>T	uc001dgg.2	-	14	3001	c.2782T>A	c.(2782-2784)TCG>ACG	p.S928T		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	928	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CCCTCCTCCGATGTCGCTGCC	0.552			NA											11	184					0	0	0.008291	0	0
MYBPHL	343263	broad.mit.edu	37	1	109838959	109838959	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:109838959C>T	uc001dxk.1	-	6	814	c.764G>A	c.(763-765)CGA>CAA	p.R255Q	MYBPHL_uc010ovh.1_Missense_Mutation_p.R232Q|MYBPHL_uc001dxl.2_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	255										ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		AGAGAAGTCTCGTTGGGCAAA	0.557			NA											11	132					0	0	0.008291	0	0
KLHL20	27252	broad.mit.edu	37	1	173703050	173703050	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:173703050G>A	uc001gjc.2	+	3	401	c.222G>A	c.(220-222)GTG>GTA	p.V74V	KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Silent_p.V56V|KLHL20_uc001gjd.2_Silent_p.V74V	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	74	BTB.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						TGCTAGTTGTGGGCGCCAAGA	0.502	GBM(159;862 2695 6559 23041)		NA											6	128					0	0	0.001984	0	0
XPR1	9213	broad.mit.edu	37	1	180775220	180775220	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:180775220G>A	uc001goi.2	+	5	662	c.470G>A	c.(469-471)CGA>CAA	p.R157Q	XPR1_uc009wxm.2_Missense_Mutation_p.R157Q|XPR1_uc009wxn.2_Missense_Mutation_p.R157Q	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	157	SPX.|Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						ACAGGGTTTCGAAAAATCCTG	0.378			NA											4	74					0	0	0.009096	0	0
CFH	3075	broad.mit.edu	37	1	196684873	196684873	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:196684873G>T	uc001gtj.3	+	11	1910	c.1670G>T	c.(1669-1671)GGT>GTT	p.G557V		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	557	Sushi 9.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						GGTTACAATGGTTGGTCTGAT	0.284			NA											6	192					0.00116845	0.00129295	0.001168	1	0
KDM5B	10765	broad.mit.edu	37	1	202704717	202704717	+	Splice_Site	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:202704717T>C	uc001gyf.2	-	22	3381	c.3265_splice	c.e22-1	p.V1089_splice	KDM5B_uc009xag.2_Splice_Site_p.V1125_splice|KDM5B_uc001gyg.1_Splice_Site_p.V931_splice	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B						negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						ACACAGCACCTAATGTGGGAC	0.388			NA											3	126					0	0	0.009096	0	0
HHAT	55733	broad.mit.edu	37	1	210591515	210591515	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:210591515T>G	uc009xcx.2	+	7	868	c.702T>G	c.(700-702)CAT>CAG	p.H234Q	HHAT_uc010psq.1_Missense_Mutation_p.H97Q|HHAT_uc001hhz.3_Missense_Mutation_p.H234Q|HHAT_uc010psr.1_Missense_Mutation_p.H235Q|HHAT_uc010pss.1_Missense_Mutation_p.H189Q|HHAT_uc009xcy.2_Missense_Mutation_p.H169Q|HHAT_uc010pst.1_Missense_Mutation_p.H171Q|HHAT_uc010psu.1_Missense_Mutation_p.H169Q	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	234					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		AGCAGGAGCATGACTCCCTGA	0.527			NA											6	286					0	0	0.001168	0	0
CCDC3	83643	broad.mit.edu	37	10	12940429	12940429	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:12940429T>C	uc001ilq.1	-	3	934	c.800A>G	c.(799-801)TAC>TGC	p.Y267C	CCDC3_uc009xjb.1_RNA|CCDC3_uc001ilr.2_RNA|CCDC3_uc009xjc.1_RNA	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3 precursor	267						endoplasmic reticulum|extracellular region				ovary(1)	1		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CCCCCGCAGGTAGGGGGGGCG	0.647			NA											8	8					0	0	0.006214	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:38654432A>G	uc010qex.1	+	5	599	c.524A>G	c.(523-525)AAT>AGT	p.N175S	HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);												0						TCATCTCGCAATGCAAGGAAA	0.453			NA											3	87					0	0	0.004672	0	0
MYPN	84665	broad.mit.edu	37	10	69959230	69959230	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:69959230C>T	uc001jnm.3	+	18	3576	c.3391C>T	c.(3391-3393)CTG>TTG	p.L1131L	MYPN_uc001jnn.3_Silent_p.L856L|MYPN_uc001jno.3_Silent_p.L1131L|MYPN_uc009xpt.2_Silent_p.L1131L|MYPN_uc010qit.1_Silent_p.L837L|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	1131	Ig-like 4.|Interaction with ACTN.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						AGTCCACTCTCTGCTCATTGA	0.552			NA											6	78					0	0	0.001168	0	0
ZDHHC16	84287	broad.mit.edu	37	10	99211511	99211511	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:99211511C>T	uc001knj.2	+	3	428	c.79C>T	c.(79-81)CGC>TGC	p.R27C	ZDHHC16_uc001knp.2_Missense_Mutation_p.R27C|ZDHHC16_uc001knk.2_Missense_Mutation_p.R27C|ZDHHC16_uc001knl.2_Missense_Mutation_p.R27C|ZDHHC16_uc001knm.2_Missense_Mutation_p.R27C|ZDHHC16_uc001knn.2_Missense_Mutation_p.R27C|ZDHHC16_uc010qow.1_Missense_Mutation_p.R27C|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_Missense_Mutation_p.R27C|ZDHHC16_uc009xvr.2_Missense_Mutation_p.R27C	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Abl-philin 2 isoform 1	27	Cytoplasmic (Potential).				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TTACAGGCGCCGCTGTCCACC	0.667			NA											10	77					0	0	0.003163	0	0
FAM178A	55719	broad.mit.edu	37	10	102677018	102677018	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:102677018G>A	uc001krt.3	+	3	1418	c.876G>A	c.(874-876)CAG>CAA	p.Q292Q	FAM178A_uc001krr.1_Silent_p.Q292Q|FAM178A_uc001krs.2_Silent_p.Q292Q|FAM178A_uc001kru.1_Silent_p.Q228Q	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	292											0						AAAGGAAACAGAATGACATCA	0.318			NA											14	100					0	0	0.016723	0	0
LOC653544	653544	broad.mit.edu	37	10	135491103	135491103	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:135491103G>T	uc010qvi.1	+	1	825	c.714G>T	c.(712-714)TGG>TGT	p.W238C		NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN	double homeobox, 4-like	238						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CTCCCTCGTGGGTCGCCTTCG	0.766			NA											3	27					1.08611e-07	1.275e-07	0.010729	1	0
SIRT3	23410	broad.mit.edu	37	11	224185	224185	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:224185T>C	uc001lok.3	-	5	896	c.862A>G	c.(862-864)AAG>GAG	p.K288E	SIRT3_uc001loj.3_Missense_Mutation_p.K146E|SIRT3_uc010qvm.1_Missense_Mutation_p.K224E|SIRT3_uc010qvn.1_Missense_Mutation_p.K207E|SIRT3_uc010qvo.1_Missense_Mutation_p.K288E|SIRT3_uc010qvp.1_Intron|SIRT3_uc010qvq.1_Missense_Mutation_p.K146E|SIRT3_uc009ybt.1_RNA	NM_012239	NP_036371	Q9NTG7	SIRT3_HUMAN	sirtuin 3 isoform a	288	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			urinary_tract(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		ATGTCGGGCTTCACAACGCCG	0.587			NA											3	82					0	0	0.004672	0	0
PTPRJ	5795	broad.mit.edu	37	11	48181542	48181542	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:48181542G>T	uc001ngp.3	+	22	3854	c.3499G>T	c.(3499-3501)GCA>TCA	p.A1167S		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1167	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						CATAACTGTGGCAATGACATC	0.398			NA											69	156					1.48005e-37	1.80006e-37	0.01441	1	0
ZDHHC5	25921	broad.mit.edu	37	11	57449913	57449913	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:57449913T>A	uc001nkx.1	+	3	1380	c.124T>A	c.(124-126)TAT>AAT	p.Y42N	ZDHHC5_uc001nky.1_5'UTR|ZDHHC5_uc001nkz.1_5'UTR	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	42	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						ACTAAGCCTGTATGTGTCACC	0.443			NA											21	121					0	0	0.016522	0	0
MS4A4A	51338	broad.mit.edu	37	11	60070165	60070165	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:60070165G>T	uc001noz.2	+	5	531	c.521G>T	c.(520-522)TGT>TTT	p.C174F	MS4A4A_uc001npa.2_Missense_Mutation_p.C155F|MS4A4A_uc001npb.2_Missense_Mutation_p.C155F|MS4A4A_uc001npc.2_Intron	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member	174	Extracellular (Potential).					integral to membrane	receptor activity				0						TCAAATAATTGTCATGGGACT	0.408			NA											5	157					5.9392e-07	6.912e-07	0.001168	1	0
OR10G7	390265	broad.mit.edu	37	11	123909325	123909325	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:123909325C>T	uc001pzq.1	-	1	384	c.384G>A	c.(382-384)CCG>CCA	p.P128P		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTACCTGAGCGGGTAACTGA	0.562			NA											12	343					0	0	0.010729	0	0
B4GALNT3	283358	broad.mit.edu	37	12	654047	654047	+	Splice_Site	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:654047G>C	uc001qii.1	+	5	448	c.448_splice	c.e5-1	p.I150_splice	B4GALNT3_uc001qij.1_Splice_Site_p.I52_splice	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta							Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TCTTGGCATAGATTCGCACAA	0.547			NA											4	89					0	0	0.009096	0	0
ZNF384	171017	broad.mit.edu	37	12	6788136	6788136	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:6788136G>A	uc010sfh.1	-	4	488	c.280C>T	c.(280-282)CCG>TCG	p.P94S	ZNF384_uc001qpz.2_Missense_Mutation_p.P94S|ZNF384_uc001qqa.2_Missense_Mutation_p.P94S|ZNF384_uc001qqb.2_Missense_Mutation_p.P94S|ZNF384_uc001qqc.2_Missense_Mutation_p.P94S|ZNF384_uc001qqd.2_Missense_Mutation_p.P94S|ZNF384_uc001qqe.2_Missense_Mutation_p.P94S|ZNF384_uc009zew.1_5'Flank	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						CCTGTAGACGGCACAGGGACC	0.562			NA	T	EWSR1|TAF15 	ALL								5	181					0	0	0.014758	0	0
LRRK2	120892	broad.mit.edu	37	12	40709014	40709014	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:40709014G>A	uc001rmg.3	+	33	4860	c.4739G>A	c.(4738-4740)GGA>GAA	p.G1580E	LRRK2_uc009zjw.2_Missense_Mutation_p.G418E|LRRK2_uc001rmi.2_Missense_Mutation_p.G413E	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1580					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTACTACAGGAGTCCTTCTT	0.259			NA											7	659					0	0	0.001984	0	0
USP15	9958	broad.mit.edu	37	12	62783684	62783684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:62783684C>A	uc001src.1	+	14	1769	c.1760C>A	c.(1759-1761)TCA>TAA	p.S587*	USP15_uc001srb.1_Nonsense_Mutation_p.S558*	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	587					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)	3			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACTGGTTCTTCACTTTTTGGT	0.393	Melanoma(181;615 2041 39364 49691 50001)		NA											7	71					3.86212e-05	4.3814e-05	0.008291	1	0
TPCN1	53373	broad.mit.edu	37	12	113729448	113729448	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:113729448G>A	uc001tuw.2	+	24	2291	c.1994G>A	c.(1993-1995)CGC>CAC	p.R665H	TPCN1_uc001tux.2_Missense_Mutation_p.R737H|TPCN1_uc010syu.1_5'Flank	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	665	Extracellular (Potential).					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			skin(2)|ovary(1)	3						CACTGGAGCCGCCTCTACTTC	0.592			NA											4	20					0	0	0.009096	0	0
CIT	11113	broad.mit.edu	37	12	120128147	120128147	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:120128147G>A	uc001txi.1	-	46	5922	c.5869C>T	c.(5869-5871)CAC>TAC	p.H1957Y	CIT_uc001txh.1_Missense_Mutation_p.H1475Y|CIT_uc001txj.1_Missense_Mutation_p.H1999Y	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1957	SH3-binding (Potential).				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CGGTAGCGGTGGGGTGTGCTT	0.726			NA											6	14					0	0	0.00308	0	0
NUPL1	9818	broad.mit.edu	37	13	25905666	25905666	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr13:25905666A>G	uc001uqi.2	+	13	1651	c.1405A>G	c.(1405-1407)ACA>GCA	p.T469A	NUPL1_uc001uqg.1_Missense_Mutation_p.T469A|NUPL1_uc001uqj.2_Missense_Mutation_p.T457A	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	469	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CATGGCTGCAACACTTACACA	0.488	Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)		NA											10	16					0	0	0.008871	0	0
KL	9365	broad.mit.edu	37	13	33629297	33629297	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr13:33629297C>T	uc001uus.2	+	3	1452	c.1444C>T	c.(1444-1446)CTA>TTA	p.L482L	KL_uc001uur.1_Silent_p.L175L	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	482	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGTTGACTTTCTAAGCCAGGA	0.483			NA											11	203					0	0	0.020292	0	0
SCEL	8796	broad.mit.edu	37	13	78176221	78176221	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr13:78176221G>A	uc001vki.2	+	16	1109	c.939G>A	c.(937-939)CCG>CCA	p.P313P	SCEL_uc001vkj.2_Silent_p.P293P|SCEL_uc010thx.1_Silent_p.P291P	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	313	16 X approximate tandem repeats.|4.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TTGGAAGTCCGATTAAAGTTA	0.378			NA											9	59					0	0	0.008291	0	0
ABHD12B	145447	broad.mit.edu	37	14	51352529	51352529	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr14:51352529C>T	uc001wys.2	+	7	593	c.578C>T	c.(577-579)ACG>ATG	p.T193M	ABHD12B_uc001wyq.2_Missense_Mutation_p.T86M|ABHD12B_uc001wyr.2_Missense_Mutation_p.T116M|ABHD12B_uc010any.2_Intron	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	193							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)					GGACTGACTACGGATGCCATT	0.522			NA											6	264					0	0	0.001168	0	0
SPTB	6710	broad.mit.edu	37	14	65239968	65239968	+	Silent	SNP	C	C	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr14:65239968C>A	uc001xht.2	-	24	5202	c.5148G>T	c.(5146-5148)CCG>CCT	p.P1716P	SPTB_uc001xhr.2_Silent_p.P1716P|SPTB_uc001xhs.2_Silent_p.P1716P|SPTB_uc001xhu.2_Silent_p.P1716P|SPTB_uc010aqi.2_Silent_p.P377P	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1716	Spectrin 14.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCCCATTTCCGGGGAAGAGG	0.542			NA											6	65					2.0095e-06	2.31865e-06	0.001984	1	0
KIAA1409	57578	broad.mit.edu	37	14	94173127	94173127	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr14:94173127G>A	uc001ybv.1	+	48	7403	c.7320G>A	c.(7318-7320)CCG>CCA	p.P2440P	KIAA1409_uc001ybs.1_Silent_p.P2418P	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2595						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GGACGCTGCCGGGCTCGGGCC	0.592			NA											8	84					0	0	0.006214	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102493718	102493718	+	Splice_Site	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr14:102493718A>G	uc001yks.2	+	46	9051	c.8887_splice	c.e46-2	p.V2963_splice		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1						cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CTGCTTCTGTAGGTCCATAGG	0.453			NA											3	125					0	0	0.004672	0	0
CYFIP1	23191	broad.mit.edu	37	15	23002904	23002904	+	Missense_Mutation	SNP	G	G	A	rs140750865		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr15:23002904G>A	uc001yus.2	+	31	3730	c.3626G>A	c.(3625-3627)CGC>CAC	p.R1209H	CYFIP1_uc001yut.2_Missense_Mutation_p.R1209H|CYFIP1_uc001yuu.2_Missense_Mutation_p.R778H|CYFIP1_uc001yuv.2_Missense_Mutation_p.R403H	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1209					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GAGAGAATTCGCAAGTTCCAG	0.443			NA											4	164					0	0	0.014758	0	0
FBN1	2200	broad.mit.edu	37	15	48818423	48818423	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr15:48818423T>C	uc001zwx.1	-	9	1220	c.892A>G	c.(892-894)ATC>GTC	p.I298V		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	298	EGF-like 5; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTTCACAGATTCCAGGAATG	0.403			NA											3	116					0	0	0.004672	0	0
DAPK2	23604	broad.mit.edu	37	15	64263636	64263636	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr15:64263636G>A	uc002amr.2	-	4	470	c.439C>T	c.(439-441)CAC>TAC	p.H147Y	DAPK2_uc010uim.1_RNA|DAPK2_uc010bgu.1_Missense_Mutation_p.H137Y	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	death-associated kinase 2	147	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2				LUAD - Lung adenocarcinoma(2;0.215)		AGATCAAAGTGAGCAATTTTC	0.493			NA											95	192					0	0	0.01441	0	0
APOB48R	55911	broad.mit.edu	37	16	28509145	28509145	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr16:28509145G>A	uc002dqb.1	+	3	2766	c.2756G>A	c.(2755-2757)CGG>CAG	p.R919Q	uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.R457Q	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	919	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						ACCGGGGGCCGGAGGGCAGAG	0.647			NA											3	22					0	0	0.009096	0	0
MYH3	4621	broad.mit.edu	37	17	10538773	10538773	+	Silent	SNP	C	C	T	rs151186379		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr17:10538773C>T	uc002gmq.1	-	29	4160	c.4083G>A	c.(4081-4083)GCG>GCA	p.A1361A		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1361	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CCTTGGACAGCGCCCTCTGCA	0.627			NA											14	217					0	0	0.020292	0	0
ZNF521	25925	broad.mit.edu	37	18	22806286	22806286	+	Silent	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr18:22806286A>G	uc002kvk.2	-	4	1843	c.1596T>C	c.(1594-1596)ATT>ATC	p.I532I	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.I532I|ZNF521_uc002kvl.2_Silent_p.I312I	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	532	C2H2-type 12.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAACCTGTCTAATATGCTCTT	0.448			NA	T	PAX5	ALL								3	86					0	0	0.009096	0	0
CNDP1	84735	broad.mit.edu	37	18	72250879	72250879	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr18:72250879C>T	uc002llq.2	+	11	1603	c.1392C>T	c.(1390-1392)AGC>AGT	p.S464S	CNDP1_uc002lls.2_Silent_p.S267S	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	464					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCCACAAGAGCGTGGTGCTAA	0.478	Melanoma(32;1029 1042 25286 38395 44237)		NA											6	128					0	0	0.001984	0	0
DPY19L3	147991	broad.mit.edu	37	19	32930060	32930060	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:32930060G>A	uc002ntg.2	+	7	815	c.639G>A	c.(637-639)GAG>GAA	p.E213E	DPY19L3_uc002nth.1_Silent_p.E213E|DPY19L3_uc002nti.1_RNA	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	213						integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)					CACTGAGGGAGAACTGGGCGC	0.373			NA											12	170					0	0	0.016723	0	0
DPY19L3	147991	broad.mit.edu	37	19	32930116	32930116	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:32930116G>C	uc002ntg.2	+	7	871	c.695G>C	c.(694-696)AGA>ACA	p.R232T	DPY19L3_uc002nth.1_Missense_Mutation_p.R232T|DPY19L3_uc002nti.1_RNA	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	232	Helical; (Potential).					integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)					TATTTCCTGAGACCAAACTTA	0.358			NA											9	142					0	0	0.010729	0	0
ZNF585A	199704	broad.mit.edu	37	19	37642866	37642866	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:37642866G>A	uc002ofo.1	-	5	2166	c.1935C>T	c.(1933-1935)GGC>GGT	p.G645G	ZNF585A_uc002ofm.1_Silent_p.G590G|ZNF585A_uc002ofn.1_Silent_p.G590G	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	645	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATTTGACCTGCCACTAAAGG	0.488			NA											10	41					0	0	0.020292	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610025	38610025	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:38610025G>A	uc002ohk.2	+	9	2880	c.2371G>A	c.(2371-2373)GTC>ATC	p.V791I		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	791	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAAATCCGACGTCTTCAGAGA	0.567			NA											6	156					0	0	0.001168	0	0
RASGRP4	115727	broad.mit.edu	37	19	38903681	38903681	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:38903681G>A	uc002oir.2	-	12	1639	c.1425C>T	c.(1423-1425)TTC>TTT	p.F475F	RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Silent_p.F406F|RASGRP4_uc010xub.1_Silent_p.F441F|RASGRP4_uc010xuc.1_Silent_p.F383F|RASGRP4_uc010xud.1_Silent_p.F378F|RASGRP4_uc010xue.1_Silent_p.F286F|RASGRP4_uc010egb.2_Silent_p.F461F	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	475	EF-hand.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|lung(1)|skin(1)	3	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CATAATTCTTGAACACAGACT	0.542			NA											8	106					0	0	0.006214	0	0
CYP2F1	1572	broad.mit.edu	37	19	41627459	41627459	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:41627459G>A	uc002opu.1	+	5	637	c.581G>A	c.(580-582)CGT>CAT	p.R194H	CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.R194H|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	194					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						GATGATGAGCGTCTGCTCACC	0.562			NA											19	149					0	0	0.007291	0	0
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:42132119C>T	uc002orh.1	-	2	391	c.280G>A	c.(280-282)GCA>ACA	p.A94T	CEACAM4_uc010xwd.1_Missense_Mutation_p.A94T	NM_001817	NP_001808	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion	94	Extracellular (Potential).|Ig-like V-type.					integral to plasma membrane|membrane fraction					0						CCACTGTATGCGGCCCCTGGG	0.488			NA											5	263					0	0	0.001168	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52716329	52716329	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:52716329G>A	uc002pyp.2	+	6	932	c.773G>A	c.(772-774)CGC>CAC	p.R258H	PPP2R1A_uc010ydk.1_Missense_Mutation_p.R203H|PPP2R1A_uc010epm.1_Missense_Mutation_p.R298H|PPP2R1A_uc002pyq.2_Missense_Mutation_p.R79H	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	258	HEAT 7.|PP2A subunit B binding.|Polyoma small and medium T antigens Binding.			R -> A (in Ref. 2; AAA36399).	ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.R258C(1)		endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AAGTCCTGGCGCGTCCGCTAC	0.602			NA	Mis		clear cell ovarian carcinoma								5	39					0	0	0.001984	0	0
ZNF534	147658	broad.mit.edu	37	19	52942354	52942354	+	Silent	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:52942354A>G	uc002pzk.2	+	4	1741	c.1680A>G	c.(1678-1680)GAA>GAG	p.E560E	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.E547E	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	zinc finger protein 534 isoform 2	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATACTGGAGAAAAGCCTTACA	0.433			NA											3	19					0	0	0.009096	0	0
MXD1	4084	broad.mit.edu	37	2	70164438	70164438	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:70164438G>A	uc002sfy.2	+	5	650	c.390G>A	c.(388-390)AAG>AAA	p.K130K	MXD1_uc010yqp.1_Silent_p.K130K|MXD1_uc010yqq.1_Silent_p.K67K|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Silent_p.K120K	NM_002357	NP_002348	Q05195	MAD1_HUMAN	MAX dimerization protein 1	130					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						GACACCTGAAGAGGCAGCTGG	0.572			NA											25	112					0	0	0.009535	0	0
DCTN1	1639	broad.mit.edu	37	2	74594501	74594501	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:74594501A>G	uc002skx.2	-	19	2542	c.2231T>C	c.(2230-2232)ATG>ACG	p.M744T	DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.M610T|DCTN1_uc002sku.2_Missense_Mutation_p.M610T|DCTN1_uc002skw.1_Missense_Mutation_p.M720T|DCTN1_uc010ffd.2_Missense_Mutation_p.M724T|DCTN1_uc002sky.2_Missense_Mutation_p.M707T	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	744					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						AGCCAGCTGCATAGTACAGTC	0.537			NA											9	62					0	0	0.006214	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702037	187702037	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:187702037A>G	uc002upu.1	-	5	779	c.739T>C	c.(739-741)TAT>CAT	p.Y247H		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	247	ZZ-type.				apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ACTTACTTATAACACTTCCCC	0.388			NA											8	110					0	0	0.004482	0	0
TMEM169	92691	broad.mit.edu	37	2	216964796	216964796	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:216964796C>T	uc010zjr.1	+	4	751	c.425C>T	c.(424-426)ACG>ATG	p.T142M	TMEM169_uc010zjs.1_Missense_Mutation_p.T142M|TMEM169_uc002vfw.2_Missense_Mutation_p.T142M|TMEM169_uc002vfv.3_Missense_Mutation_p.T142M	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN	transmembrane protein 169	142	Extracellular (Potential).					integral to membrane				ovary(1)	1		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAAGGGAAACGACGCCTGAA	0.527			NA											18	102					0	0	0.008871	0	0
VIL1	7429	broad.mit.edu	37	2	219301981	219301981	+	Silent	SNP	C	C	T	rs141506332	byFrequency	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:219301981C>T	uc002via.2	+	17	2171	c.2106C>T	c.(2104-2106)CAC>CAT	p.H702H	VIL1_uc010zke.1_Silent_p.H391H|VIL1_uc002vib.2_Silent_p.H702H	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	702	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCAGGGACACGAGCCCCCCA	0.602			NA											4	88					0	0	0.009096	0	0
AGAP1	116987	broad.mit.edu	37	2	236659077	236659077	+	Silent	SNP	G	G	A	rs139143512	byFrequency	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:236659077G>A	uc002vvs.2	+	6	1213	c.618G>A	c.(616-618)ACG>ACA	p.T206T	AGAP1_uc002vvt.2_Silent_p.T206T	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	206	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						AACGGTGCACGTACTACGAGA	0.522			NA											5	179					0	0	0.014758	0	0
SEMG1	6406	broad.mit.edu	37	20	43836817	43836817	+	Silent	SNP	A	A	G	rs17850164		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr20:43836817A>G	uc002xni.2	+	2	936	c.879A>G	c.(877-879)ACA>ACG	p.T293T	SEMG1_uc002xnj.2_Intron|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.T293T	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	293	58 AA repeat 1.				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				CTTCAAGTACAGAAGAAAGAC	0.383			NA											5	148					0	0	0.014758	0	0
BRWD1	54014	broad.mit.edu	37	21	40569284	40569284	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr21:40569284G>C	uc002yxk.1	-	41	5850	c.5711C>G	c.(5710-5712)TCC>TGC	p.S1904C	BRWD1_uc010goc.1_Missense_Mutation_p.S547C|BRWD1_uc002yxl.2_Missense_Mutation_p.S1904C	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1904					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGAGTCACTGGAACAGACCCT	0.398	Melanoma(170;988 1986 4794 16843 39731)		NA											4	254					0	0	0.009096	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000423	46000423	+	Silent	SNP	G	G	A	rs139901000	by1000genomes	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr21:46000423G>A	uc002zfl.1	-	1	59	c.33C>T	c.(31-33)AGC>AGT	p.S11S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	keratin associated protein 10-5	11						keratin filament					0						CAGAGCAAGCGCTGGAGCAGA	0.592			NA											12	115					0	0	0.016723	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257635	41257635	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr22:41257635G>A	uc003azj.2	-	1	496	c.364C>T	c.(364-366)CGT>TGT	p.R122C	XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_RNA|XPNPEP3_uc003azf.1_RNA|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	122					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)	1						CTTCCTGGACGATTTAACAGG	0.363			NA											5	158					0	0	0.001168	0	0
NAGA	4668	broad.mit.edu	37	22	42456372	42456372	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr22:42456372C>G	uc003bbx.2	-	10	1284	c.1147G>C	c.(1147-1149)GAA>CAA	p.E383Q	NAGA_uc003bby.2_Missense_Mutation_p.E383Q|NAGA_uc003bbw.3_Missense_Mutation_p.E383Q	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	383					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						AAGTTGGTTTCATCTCGGAGG	0.557			NA											4	156					0	0	0.009096	0	0
SLC4A7	9497	broad.mit.edu	37	3	27472895	27472895	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:27472895G>A	uc003cdv.2	-	7	1088	c.1017C>T	c.(1015-1017)GCC>GCT	p.A339A	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_Intron|SLC4A7_uc003cdu.3_Intron|SLC4A7_uc011aww.1_Silent_p.A348A|SLC4A7_uc011awx.1_Silent_p.A335A|SLC4A7_uc011awy.1_Silent_p.A331A|SLC4A7_uc011awz.1_Intron|SLC4A7_uc011axa.1_Intron|SLC4A7_uc011axb.1_Silent_p.A335A|SLC4A7_uc010hfm.2_Intron|SLC4A7_uc003cdw.2_Intron	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	339	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						TATCATCACTGGCAGGTGAAA	0.502			NA											28	157					0	0	0.009535	0	0
MON1A	84315	broad.mit.edu	37	3	49947622	49947622	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:49947622C>T	uc003cxz.2	-	4	1726	c.1600G>A	c.(1600-1602)GTT>ATT	p.V534I	MON1A_uc003cya.2_Missense_Mutation_p.V372I|MON1A_uc003cyb.2_Missense_Mutation_p.V372I	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	437							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACTTGGGCAACGCTGTAGTAG	0.627			NA											4	99					0	0	0.009096	0	0
DNAH1	25981	broad.mit.edu	37	3	52429597	52429597	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:52429597T>C	uc011bef.1	+	70	11423	c.11162T>C	c.(11161-11163)ATA>ACA	p.I3721T	DNAH1_uc003ddv.2_Missense_Mutation_p.I579T	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3786	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGCAGCTCCATAGAGAGGGGC	0.637			NA											12	49					0	0	0.008871	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64582594	64582594	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:64582594T>C	uc003dmg.2	-	27	4123	c.4091A>G	c.(4090-4092)AAC>AGC	p.N1364S	ADAMTS9_uc011bfo.1_Missense_Mutation_p.N1336S|ADAMTS9_uc003dmh.1_Missense_Mutation_p.N1193S|ADAMTS9_uc011bfp.1_Missense_Mutation_p.N275S	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1364	TSP type-1 9.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACACAGTCGTTTGCGGTGTA	0.502			NA											9	79					0	0	0.008291	0	0
SEMA5B	54437	broad.mit.edu	37	3	122642572	122642572	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:122642572G>A	uc003efz.1	-	10	1468	c.1164C>T	c.(1162-1164)TGC>TGT	p.C388C	SEMA5B_uc011bju.1_Silent_p.C330C|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.C388C|SEMA5B_uc010hro.1_Silent_p.C330C|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	388	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GGTTGAAGGCGCAGACAGCAG	0.592			NA											39	113					0	0	0.009718	0	0
NEK11	79858	broad.mit.edu	37	3	130884337	130884337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:130884337C>T	uc003eny.2	+	12	1476	c.1150C>T	c.(1150-1152)CAG>TAG	p.Q384*	NEK11_uc003enx.2_Nonsense_Mutation_p.Q384*|NEK11_uc003eoa.2_Nonsense_Mutation_p.Q384*|NEK11_uc003enz.2_Nonsense_Mutation_p.Q202*|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Nonsense_Mutation_p.Q236*|NEK11_uc011bll.1_Nonsense_Mutation_p.Q279*|NEK11_uc011blm.1_Nonsense_Mutation_p.Q384*	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	384	Potential.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						TCGGAACTTTCAGCAGCTGAG	0.308			NA											4	55					0	0	0.014758	0	0
CENPE	1062	broad.mit.edu	37	4	104041347	104041347	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr4:104041347A>T	uc003hxb.1	-	44	7377	c.7287T>A	c.(7285-7287)AAT>AAA	p.N2429K	CENPE_uc003hxc.1_Missense_Mutation_p.N2308K	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	2429	Kinetochore-binding domain.|Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAAGGCATTTATTTGATTCAT	0.269			NA											8	32					0	0	0.00308	0	0
CYP4V2	285440	broad.mit.edu	37	4	187131662	187131662	+	Missense_Mutation	SNP	C	C	T	rs146494374		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr4:187131662C>T	uc003iyw.3	+	11	1749	c.1445C>T	c.(1444-1446)TCG>TTG	p.S482L	CYP4V2_uc010ism.2_RNA	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily v,	482					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		ACCATTCTTTCGTGCATCCTG	0.393			NA											20	115					0	0	0.014323	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167367	140167367	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr5:140167367C>T	uc003lhb.2	+	1	1492	c.1492C>T	c.(1492-1494)CGG>TGG	p.R498W	PCDHA1_uc003lha.2_Missense_Mutation_p.R498W|PCDHA1_uc003lgz.2_Missense_Mutation_p.R498W	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	498	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAACGGCGGGTGGGCGA	0.672			NA											14	132					0	0	0.008871	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236799	140236799	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr5:140236799C>T	uc003lhx.2	+	1	1166	c.1166C>T	c.(1165-1167)ACG>ATG	p.T389M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.T389M|PCDHA10_uc011dad.1_Missense_Mutation_p.T389M	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	389	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCTCTGACGCCTCACGTT	0.552			NA											11	230					0	0	0.010729	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146991890	146991890	+	Silent	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr5:146991890T>C	uc003loq.1	-	20	2773	c.2391A>G	c.(2389-2391)CAA>CAG	p.Q797Q	JAKMIP2_uc011dbx.1_Silent_p.Q755Q|JAKMIP2_uc003lor.1_Silent_p.Q776Q|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Silent_p.Q797Q	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	797	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTTTTATTTGTCTTTTCT	0.308			NA											3	18					0	0	0.004672	0	0
FAM71B	153745	broad.mit.edu	37	5	156592963	156592963	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr5:156592963C>A	uc003lwn.2	-	1	317	c.217G>T	c.(217-219)GGC>TGC	p.G73C		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	73						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGACGATGCCCACTGTCACC	0.483			NA											12	125					0.00136819	0.00150168	0.013537	1	0
CAPN11	11131	broad.mit.edu	37	6	44144683	44144683	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr6:44144683C>T	uc003owt.1	+	11	1223	c.1185C>T	c.(1183-1185)TAC>TAT	p.Y395Y	CAPN11_uc011dvn.1_Silent_p.Y49Y	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	395	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCACCTTCTACGAGGGCAGCT	0.607			NA											23	185					0	0	0.01892	0	0
THEMIS	387357	broad.mit.edu	37	6	128134845	128134845	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr6:128134845T>C	uc003qbi.2	-	5	1260	c.941A>G	c.(940-942)CAG>CGG	p.Q314R	THEMIS_uc010kfa.2_Missense_Mutation_p.Q217R|THEMIS_uc011ebt.1_Missense_Mutation_p.Q314R|THEMIS_uc010kfb.2_Missense_Mutation_p.Q279R	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	314	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						TCTTGATGCCTGGTACTTTTT	0.443			NA											4	170					0	0	0.009096	0	0
ENPP1	5167	broad.mit.edu	37	6	132203597	132203597	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr6:132203597G>A	uc011ecf.1	+	21	2233	c.2213G>A	c.(2212-2214)GGG>GAG	p.G738E		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	738	Nuclease.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GTGAGTTACGGGTTCCTCTCC	0.383	Colon(104;336 1535 5856 11019 33782)		NA											44	158					0	0	0.01441	0	0
AKAP12	9590	broad.mit.edu	37	6	151672021	151672021	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr6:151672021G>C	uc011eep.1	+	4	2735	c.2495G>C	c.(2494-2496)GGG>GCG	p.G832A	AKAP12_uc003qoe.2_Missense_Mutation_p.G832A|AKAP12_uc003qof.2_Missense_Mutation_p.G734A|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.G727A	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	832					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAAGACGCAGGGCCAACAGGG	0.512	Melanoma(141;1616 1805 10049 24534 51979)		NA											57	220					0	0	0.01441	0	0
PARK2	5071	broad.mit.edu	37	6	161781119	161781119	+	Splice_Site	SNP	C	C	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr6:161781119C>A	uc003qtx.3	-	11	1419	c.1285_splice	c.e11+1	p.G429_splice	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Splice_Site_p.G238_splice|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Splice_Site_p.G401_splice|PARK2_uc003qtz.3_Splice_Site_p.G280_splice|PARK2_uc011egf.1_Splice_Site_p.G103_splice	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1						aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CACAGACTCACCATTTTTTTC	0.388			NA											35	305					4.14481e-20	4.99597e-20	0.00623	1	0
CARD11	84433	broad.mit.edu	37	7	2983995	2983995	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:2983995G>A	uc003smv.2	-	5	939	c.535C>T	c.(535-537)CGG>TGG	p.R179W		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	179	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R172W(1)		haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGTAGTACCGCTCCTGGAAG	0.577			NA	Mis		DLBCL								11	180					0	0	0.008291	0	0
HOXA9	3205	broad.mit.edu	37	7	27203329	27203329	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:27203329C>T	uc003syt.2	-	2	785	c.712G>A	c.(712-714)GAG>AAG	p.E238K		NM_152739	NP_689952	P31269	HXA9_HUMAN	homeobox A9	238	Homeobox.						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2						CGAGCCACCTCGTACCTGCGG	0.507			NA	T	NUP98|MSI2	AML*								23	177					0	0	0.007291	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909720	32909720	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:32909720C>T	uc003tdb.2	-	4	1768	c.1109G>A	c.(1108-1110)CGC>CAC	p.R370H	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	370	Kelch 1.										0			GBM - Glioblastoma multiforme(11;0.0499)			TGGCTTTATGCGGACAAAAAG	0.428			NA											4	192					0	0	0.009096	0	0
PTPN12	5782	broad.mit.edu	37	7	77256457	77256457	+	Silent	SNP	C	C	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:77256457C>G	uc003ugh.2	+	13	1552	c.1461C>G	c.(1459-1461)GTC>GTG	p.V487V	PTPN12_uc011kgp.1_Silent_p.V368V|PTPN12_uc011kgq.1_Silent_p.V357V|PTPN12_uc010lds.2_Silent_p.V219V	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	487						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						ATCTAAATGTCGGTGATACTT	0.383			NA											5	142					0	0	0.014758	0	0
CALD1	800	broad.mit.edu	37	7	134635162	134635162	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:134635162G>A	uc003vrz.2	+	9	2291	c.1832G>A	c.(1831-1833)CGA>CAA	p.R611Q	CALD1_uc003vry.2_Missense_Mutation_p.R356Q|CALD1_uc003vsa.2_Missense_Mutation_p.R382Q|CALD1_uc003vsb.2_Missense_Mutation_p.R356Q|CALD1_uc010lmm.2_Missense_Mutation_p.R382Q|CALD1_uc011kpt.1_Missense_Mutation_p.R130Q|CALD1_uc003vsc.2_Missense_Mutation_p.R376Q|CALD1_uc003vsd.2_Missense_Mutation_p.R350Q|CALD1_uc011kpu.1_Missense_Mutation_p.R361Q|CALD1_uc011kpv.1_Missense_Mutation_p.R220Q|CALD1_uc003vse.2_Missense_Mutation_p.R475Q	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	611	Tropomyosin-binding (Potential).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						ATTGAAAGGCGAAGAGCAGAA	0.458			NA											4	85					0	0	0.009096	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741075	146741075	+	Missense_Mutation	SNP	G	G	A	rs138738227	by1000genomes	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:146741075G>A	uc003weu.1	+	4	995	c.479G>A	c.(478-480)CGC>CAC	p.R160H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	160	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGCTATGTGCGCATAGTGCCT	0.433			NA								HNSCC(39;0.1)			4	186					0	0	0.001168	0	0
ZFAND1	79752	broad.mit.edu	37	8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr8:82626245G>A	uc003ycj.1	-	6	402	c.388C>T	c.(388-390)CGA>TGA	p.R130*	ZFAND1_uc010lzx.1_Nonsense_Mutation_p.R130*|ZFAND1_uc003yck.1_Nonsense_Mutation_p.R23*	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	130							zinc ion binding	p.R130*(1)		ovary(1)	1						CCTTTCCATCGTTTACTTGCT	0.343			NA											4	85					0	0	0.009096	0	0
VLDLR	7436	broad.mit.edu	37	9	2635511	2635511	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:2635511G>A	uc003zhk.1	+	2	538	c.141G>A	c.(139-141)ACG>ACA	p.T47T	VLDLR_uc003zhl.1_Silent_p.T47T|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.T47T	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	47	Extracellular (Potential).|LDL-receptor class A 1.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GCTGTATTACGCTGTTGTGGA	0.408			NA											11	265					0	0	0.016723	0	0
NUDT2	318	broad.mit.edu	37	9	34343338	34343338	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:34343338G>A	uc003zub.2	+	5	702	c.344G>A	c.(343-345)CGC>CAC	p.R115H	NUDT2_uc003zuc.2_Missense_Mutation_p.R115H|NUDT2_uc003zud.2_Missense_Mutation_p.R115H	NM_001161	NP_001152	P50583	AP4A_HUMAN	nudix-type motif 2	115	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CAAGCCTACCGCTGGCTGGGG	0.562	Melanoma(95;1683 1957 4276 39813)		NA											4	39					0	0	0.020292	0	0
IKBKAP	8518	broad.mit.edu	37	9	111668633	111668633	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:111668633C>T	uc004bdm.3	-	14	2113	c.1593G>A	c.(1591-1593)TTG>TTA	p.L531L	IKBKAP_uc004bdl.2_Silent_p.L182L|IKBKAP_uc011lwc.1_Silent_p.L417L|IKBKAP_uc010mtq.2_Silent_p.L182L	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	531					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						AAGCTGCAGTCAAATGGTGAA	0.473			NA											21	84					0	0	0.012319	0	0
OR1J2	26740	broad.mit.edu	37	9	125273234	125273234	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:125273234G>A	uc004bmj.1	+	4	1009	c.154G>A	c.(154-156)GAC>AAC	p.D52N	OR1J2_uc011lyv.1_Missense_Mutation_p.D52N	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|pancreas(1)|breast(1)	5						CATCCAGCTGGACTCTCACCT	0.547			NA											34	178					0	0	0.019004	0	0
SCAI	286205	broad.mit.edu	37	9	127765392	127765392	+	Splice_Site	SNP	C	C	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:127765392C>A	uc004bpe.2	-	11	1146	c.1065_splice	c.e11+1	p.K355_splice	SCAI_uc004bpd.2_Splice_Site_p.K378_splice|SCAI_uc010mwu.2_Splice_Site	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2						negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			ovary(2)|breast(2)|central_nervous_system(1)	5						ATCACACATACCTTAAAAGAC	0.383			NA											56	239					3.89483e-19	4.65311e-19	0.01441	1	0
MAP7D2	256714	broad.mit.edu	37	X	20031731	20031731	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:20031731T>G	uc004czr.1	-	12	1658	c.1639A>C	c.(1639-1641)ATC>CTC	p.I547L	MAP7D2_uc004czq.1_Missense_Mutation_p.I432L|MAP7D2_uc011mji.1_Missense_Mutation_p.I495L|MAP7D2_uc010nfo.1_Missense_Mutation_p.I588L|MAP7D2_uc011mjj.1_Missense_Mutation_p.I502L	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	547										ovary(2)|breast(1)	3						CTCTTCATGATTTCATCTATT	0.308			NA											8	109					0	0	0.00308	0	0
MAGED1	9500	broad.mit.edu	37	X	51645010	51645010	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:51645010T>A	uc004dpm.2	+	12	2416	c.2321T>A	c.(2320-2322)TTC>TAC	p.F774Y	MAGED1_uc004dpn.2_Missense_Mutation_p.F830Y|MAGED1_uc004dpo.2_Missense_Mutation_p.F774Y	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	774					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					GCCATTGGTTTCTTCTGGGTT	0.512			NA								Multiple Myeloma(10;0.10)			11	30					0	0	0.008291	0	0
SSX8	280659	broad.mit.edu	37	X	52654550	52654550	+	Splice_Site	SNP	A	A	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:52654550A>T	uc011moa.1	+	3		c.354_splice	c.e3-2		SSX8_uc011mob.1_Splice_Site					Homo sapiens cDNA FLJ56587 complete cds, highly similar to Protein SSX8.												0						TTTTTTTTTTAGGCCTTCAAT	0.413			NA											4	56					0	0	0.014758	0	0
ATRX	546	broad.mit.edu	37	X	76939965	76939965	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:76939965G>A	uc004ecp.3	-	9	1015	c.783C>T	c.(781-783)AAC>AAT	p.N261N	ATRX_uc004ecq.3_Silent_p.N223N|ATRX_uc004eco.3_Silent_p.N46N|ATRX_uc004ecr.2_Silent_p.N222N|ATRX_uc010nlx.1_Silent_p.N261N|ATRX_uc010nly.1_Silent_p.N206N	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	261	ADD.|PHD-type; atypical.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	AATACCATTGGTTGTTTTCAT	0.393			NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						28	268					0	0	0.00632	0	0
SPANXE	171489	broad.mit.edu	37	X	140785820	140785820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:140785820G>T	uc004fbq.2	-	2	189	c.96C>A	c.(94-96)TAC>TAA	p.Y32*		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	SPANX family, member E	32						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)					GCGGGTCTGAGTACCCACTCG	0.488			NA											9	334					5.50884e-06	6.30248e-06	0.013537	1	0
CXorf40A	91966	broad.mit.edu	37	X	148628443	148628443	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:148628443G>C	uc004fdb.2	+	5	684	c.412G>C	c.(412-414)GGA>CGA	p.G138R	CXorf40A_uc011mxm.1_Missense_Mutation_p.G138R|CXorf40A_uc011mxn.1_Missense_Mutation_p.G138R|CXorf40A_uc004fdd.2_Missense_Mutation_p.G138R|CXorf40A_uc004fde.1_Missense_Mutation_p.G138R|CXorf40A_uc011mxo.1_3'UTR|CXorf40A_uc004fdg.2_Missense_Mutation_p.G138R|CXorf40A_uc004fdf.2_Missense_Mutation_p.G138R|CXorf40A_uc004fdh.2_Missense_Mutation_p.G138R|CXorf40A_uc010nsy.2_Missense_Mutation_p.G138R|CXorf40A_uc004fdi.2_Missense_Mutation_p.G155R	NM_178124	NP_835225	Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40	138							protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACCTAGGAAAGGAGGCAAGGA	0.488			NA											3	82					0	0	0.009096	0	0
VAMP7	6845	broad.mit.edu	37	X	155127856	155127856	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:155127856G>A	uc004fnr.2	+	4	459	c.285G>A	c.(283-285)CAG>CAA	p.Q95Q	VAMP7_uc004fnt.2_Silent_p.Q54Q|VAMP7_uc011naa.1_Silent_p.Q56Q|VAMP7_uc011nab.1_5'UTR|VAMP7_uc004fns.2_Silent_p.Q95Q|VAMP7_uc011nac.1_Silent_p.Q28Q	NM_005638	NP_005629	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7 isoform 1	95	Longin.|Cytoplasmic (Potential).				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	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)					CAAGAGCACAGACAGCACTTC	0.398			NA											13	183					0	0	0.003163	0	0
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:6727803_6727804delTC	uc001aof.2	-	4	449_450	c.343_344delGA	c.(343-345)GAAfs	p.E115fs	DNAJC11_uc010nzt.1_Frame_Shift_Del_p.E77fs|DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	115					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505			NA											7	114	---	---	---	---	NA	NA	NA	NA	NA
MAN1A2	10905	broad.mit.edu	37	1	117944999	117945019	+	In_Frame_Del	DEL	TAGGAATACGTGGTGGAGACC	TAGGAATACGTGGTGGAGACC	-			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	TAGGAATACGTGGTGGAGACC	TAGGAATACGTGGTGGAGACC	-	-	TAGGAATACGTGGTGGAGACC	TAGGAATACGTGGTGGAGACC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:117944999_117945019delTAGGAATACGTGGTGGAGACC	uc001ehd.1	+	2	1215_1235	c.494_514delTAGGAATACGTGGTGGAGACC	c.(493-516)GTAGGAATACGTGGTGGAGACCCA>GCA	p.165_172VGIRGGDP>A	MAN1A2_uc009whg.1_Intron	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	165_172	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CCCAACCTTGTAGGAATACGTGGTGGAGACCCAGAAGATAA	0.371	Ovarian(33;199 881 8228 13687 31538)		NA											13	63	---	---	---	---	NA	NA	NA	NA	NA
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr16:4910691_4910693delAGA	uc002cyb.2	+	7	1037_1039	c.698_700delAGA	c.(697-702)GAGAAG>GAG	p.K238del	UBN1_uc010uxw.1_In_Frame_Del_p.K238del|UBN1_uc002cyc.2_In_Frame_Del_p.K238del	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	238	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						GCCAGTAAGGAGAAGAAGAAGAA	0.453			NA											7	547	---	---	---	---	NA	NA	NA	NA	NA
TOP3A	7156	broad.mit.edu	37	17	18194306	18194307	+	In_Frame_Ins	INS	-	-	CGA			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr17:18194306_18194307insCGA	uc002gsx.1	-	12	1545_1546	c.1316_1317insTCG	c.(1315-1317)CGC>CGTCGC	p.439_439R>RR	TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_5'UTR|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_In_Frame_Ins_p.337_337R>RR	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	439					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						CCAGGAAATGGCGAACAATAAA	0.525			NA											17	92	---	---	---	---	NA	NA	NA	NA	NA
EGFR	1956	broad.mit.edu	37	7	55242466	55242480	+	In_Frame_Del	DEL	GAATTAAGAGAAGCA	GAATTAAGAGAAGCA	-	rs121913426		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	GAATTAAGAGAAGCA	GAATTAAGAGAAGCA	-	-	GAATTAAGAGAAGCA	GAATTAAGAGAAGCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:55242466_55242480delGAATTAAGAGAAGCA	uc003tqk.2	+	19	2482_2496	c.2236_2250delGAATTAAGAGAAGCA	c.(2236-2250)GAATTAAGAGAAGCAdel	p.ELREA746del	EGFR_uc010kzg.1_In_Frame_Del_p.ELREA701del|EGFR_uc011kco.1_In_Frame_Del_p.ELREA693del	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	746_750	Cytoplasmic (Potential).|Protein kinase.		Missing (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(1613)|p.L747_P753>S(110)|p.L747_A750>P(74)|p.E746_S752>V(67)|p.L747_T751del(62)|p.E746_T751>A(30)|p.L747_S752del(28)|p.L747_T751>P(20)|p.E746_T751del(18)|p.L747_E749del(18)|p.K745_E749del(14)|p.E746_E749del(12)|p.E746_S752del(10)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_P753>VS(6)|p.E746_A750>IP(5)|p.L747_T751>Q(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.E746_A750>QP(4)|p.E746V(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.L747S(3)|p.L747_S752>Q(3)|p.A750P(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.E746_S752>T(2)|p.A750_E758>P(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_T751>L(2)|p.E746K(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.K745_E746insVPVAIK(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.E746_T751>P(1)|p.E746del(1)|p.A750_K754del(1)|p.L747_S752>QH(1)|p.L747P(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_T751>A(1)|p.E746_P753>LS(1)|p.E746_P753>VQ(1)|p.E746_T751>LS(1)|p.A750_E758del(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746I(1)|p.L747_K754del(1)|p.R748I(1)|p.E746_A750>KP(1)|p.T751_E758del(1)|p.E746_A750>EP(1)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGCTATCAAGGAATTAAGAGAAGCAACATCTCCGA	0.474		E746_A750del(NCIH1650_LUNG)|E746K(HCC827_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			22	148	---	---	---	---	NA	NA	NA	NA	NA
