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
CDC42	998	broad.mit.edu	37	1	22413237	22413237	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:22413237G>A	uc001bfq.2	+	6	656	c.364G>A	c.(364-366)GAC>AAC	p.D122N	CDC42_uc009vqg.1_Missense_Mutation_p.D122N|CDC42_uc001bfp.2_Missense_Mutation_p.D122N|CDC42_uc001bfr.2_Missense_Mutation_p.D122N|CDC42_uc010odr.1_Missense_Mutation_p.D167N|CDC42_uc010ods.1_Missense_Mutation_p.D164N|CDC42_uc009vqh.2_Missense_Mutation_p.D81N	NM_001039802	NP_001034891	P60953	CDC42_HUMAN	cell division cycle 42 isoform 1	122					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			haematopoietic_and_lymphoid_tissue(1)	1		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TCTCAGAGATGACCCCTCTAC	0.433			NA											28	161					0	0	0.004656	0	0
GNL2	29889	broad.mit.edu	37	1	38033912	38033912	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:38033912G>T	uc001cbk.2	-	14	2078	c.1915C>A	c.(1915-1917)CAA>AAA	p.Q639K		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	639					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				GTTTTTCTTTGTTCTTCAGGT	0.343			NA											17	44					0.00152264	0.00166765	0.010504	1	0
PTPRF	5792	broad.mit.edu	37	1	44086229	44086229	+	Silent	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:44086229G>A	uc001cjr.2	+	31	5683	c.5343G>A	c.(5341-5343)GAG>GAA	p.E1781E	PTPRF_uc001cjs.2_Silent_p.E1772E|PTPRF_uc001cju.2_Silent_p.E1170E|PTPRF_uc009vwt.2_Silent_p.E1341E|PTPRF_uc001cjv.2_Silent_p.E1252E|PTPRF_uc001cjw.2_Silent_p.E1007E	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1781	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCCTGCGTGAGTTCAAGGTCA	0.562			NA											33	81					0	0	0.006999	0	0
PKN2	5586	broad.mit.edu	37	1	89250394	89250394	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:89250394C>T	uc001dmn.2	+	7	1400	c.1058C>T	c.(1057-1059)TCA>TTA	p.S353L	PKN2_uc001dmm.1_Missense_Mutation_p.S353L|PKN2_uc010osp.1_Missense_Mutation_p.S353L|PKN2_uc010osq.1_Missense_Mutation_p.S196L|PKN2_uc009wcv.2_Missense_Mutation_p.S353L|PKN2_uc010osr.1_Missense_Mutation_p.S18L	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	353	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AAAGCAACATCAGTTGCACTG	0.423			NA											4	70					0	0	0.009096	0	0
VTCN1	79679	broad.mit.edu	37	1	117695862	117695862	+	Missense_Mutation	SNP	G	G	A	rs145818315	byFrequency	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:117695862G>A	uc001ehb.2	-	4	647	c.575C>T	c.(574-576)TCG>TTG	p.S192L	VTCN1_uc001ehc.2_Missense_Mutation_p.S97L|VTCN1_uc009whf.1_Missense_Mutation_p.S76L	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation	192	Extracellular (Potential).|Ig-like V-type 2.					integral to membrane|plasma membrane					0	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		GGAGACTTCCGAGAAGTTGGC	0.517			NA											5	93					0	0	0.014758	0	0
CD244	51744	broad.mit.edu	37	1	160808748	160808748	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:160808748C>G	uc009wtq.2	-	4	940	c.762G>C	c.(760-762)AAG>AAC	p.K254N	CD244_uc001fxa.2_Missense_Mutation_p.K249N|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.K157N|CD244_uc010pjt.1_RNA	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	CD244 natural killer cell receptor 2B4	254	Cytoplasmic (Potential).				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTCCTTCCTCTTTCTCCTCC	0.522			NA											10	32					0	0	0.008291	0	0
ITIH5	80760	broad.mit.edu	37	10	7621881	7621881	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr10:7621881T>A	uc001ijq.2	-	9	1334	c.1255A>T	c.(1255-1257)ATC>TTC	p.I419F	ITIH5_uc001ijp.2_Missense_Mutation_p.I205F|ITIH5_uc001ijr.1_Missense_Mutation_p.I419F	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	419	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						TTGTTGAGGATCTTGAGGGTG	0.607			NA											4	39					0	0	0.009096	0	0
C10orf68	79741	broad.mit.edu	37	10	32983870	32983870	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr10:32983870A>G	uc001iwn.3	+	6	802	c.329A>G	c.(328-330)GAA>GGA	p.E110G	C10orf68_uc001iwl.1_Missense_Mutation_p.E118G|C10orf68_uc001iwm.1_Intron|C10orf68_uc010qei.1_Missense_Mutation_p.E37G	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	110										skin(2)|ovary(1)	3						TCAAAACTGGAAATGCAAATT	0.289			NA											3	28					0	0	0.004672	0	0
ANK3	288	broad.mit.edu	37	10	61946480	61946480	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr10:61946480C>A	uc001jky.2	-	17	2270	c.2078G>T	c.(2077-2079)AGC>ATC	p.S693I	ANK3_uc010qih.1_Missense_Mutation_p.S676I|ANK3_uc001jkz.3_Missense_Mutation_p.S687I|ANK3_uc001jlb.1_Missense_Mutation_p.S222I|ANK3_uc001jlc.1_Missense_Mutation_p.S354I	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	693					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TACCTTATTGCTCAGGTTCAC	0.493			NA											4	19					0.00024832	0.000276356	0.009096	1	0
LOC653544	653544	broad.mit.edu	37	10	135491125	135491125	+	Missense_Mutation	SNP	G	G	A	rs140402194	by1000genomes	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr10:135491125G>A	uc010qvi.1	+	1	847	c.736G>A	c.(736-738)GCG>ACG	p.A246T		NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN	double homeobox, 4-like	246						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCACACCGGCGCGTGGGGAAC	0.781			NA											3	21					0	0	0.001168	0	0
ART1	417	broad.mit.edu	37	11	3681250	3681250	+	Silent	SNP	C	C	T	rs147920431	byFrequency	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:3681250C>T	uc001lye.1	+	3	602	c.501C>T	c.(499-501)AGC>AGT	p.S167S	ART1_uc009yeb.1_Silent_p.S167S	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	167					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	TCCTGGGCAGCGGCCAGCGTC	0.706			NA											4	51					0	0	0.009096	0	0
OR51A7	119687	broad.mit.edu	37	11	4929450	4929450	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:4929450C>T	uc010qyq.1	+	1	851	c.851C>T	c.(850-852)CCC>CTC	p.P284L		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGTGCCGCCCCTTATGAAC	0.453			NA											28	77					0	0	0.012213	0	0
OR2D3	120775	broad.mit.edu	37	11	6942529	6942529	+	Silent	SNP	T	T	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:6942529T>C	uc010rav.1	+	1	297	c.297T>C	c.(295-297)GTT>GTC	p.V99V		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGTGTTGGTTCACTTCTTGG	0.423			NA											60	107					0	0	0.01441	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798207	55798207	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:55798207G>A	uc010riw.1	+	1	313	c.313G>A	c.(313-315)GCT>ACT	p.A105T		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					GTTTTTCTTCGCTTCTTTTGC	0.463			NA											9	46					0	0	0.004482	0	0
SHANK2	22941	broad.mit.edu	37	11	70331681	70331681	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:70331681C>G	uc001oqc.2	-	21	4795	c.4717G>C	c.(4717-4719)GAT>CAT	p.D1573H	SHANK2_uc010rqn.1_Missense_Mutation_p.D985H|SHANK2_uc001opz.2_Missense_Mutation_p.D978H|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1194					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACAAAGCTATCTACATCTTCT	0.413			NA											30	67					0	0	0.013726	0	0
SLC6A13	6540	broad.mit.edu	37	12	346415	346415	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr12:346415C>G	uc001qic.1	-	6	658	c.605G>C	c.(604-606)GGG>GCG	p.G202A	SLC6A13_uc009zdj.1_Missense_Mutation_p.G202A|SLC6A13_uc010sdl.1_Missense_Mutation_p.G110A|SLC6A13_uc010sdm.1_Missense_Mutation_p.G83A	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	202	Extracellular (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GCGCAGGGCCCCCAGGTGCTG	0.602			NA											5	66					0	0	0.001168	0	0
GOLGA3	2802	broad.mit.edu	37	12	133385015	133385015	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr12:133385015G>A	uc001ukz.1	-	5	1199	c.640C>T	c.(640-642)CGC>TGC	p.R214C	GOLGA3_uc001ula.1_Missense_Mutation_p.R214C|GOLGA3_uc001ulb.2_Missense_Mutation_p.R214C	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	214	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ACACTGGTGCGCAGGAAGGAA	0.512			NA											81	222					0	0	0.01441	0	0
MYH7	4625	broad.mit.edu	37	14	23883310	23883310	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr14:23883310G>A	uc001wjx.2	-	38	5667	c.5561C>T	c.(5560-5562)ACG>ATG	p.T1854M		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1854	Potential.		T -> M (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTCCTCCTCCGTCTGGGGGCC	0.597			NA											17	40					0	0	0.006122	0	0
THBS1	7057	broad.mit.edu	37	15	39874029	39874029	+	Splice_Site	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr15:39874029G>A	uc001zkh.2	+	2	151	c.-28_splice	c.e2-1			NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor						activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCCTGCTACAGGATCCCTGCT	0.637			NA									OREG0023050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	27					0	0	0.009096	0	0
SLC28A2	9153	broad.mit.edu	37	15	45555437	45555437	+	Silent	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr15:45555437G>A	uc001zva.2	+	5	506	c.441G>A	c.(439-441)ACG>ACA	p.T147T		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled	147					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GGCTTTGGACGAAATGGTAAG	0.453	NSCLC(92;493 1501 26361 28917 47116)		NA											16	26					0	0	0.006122	0	0
STOML1	9399	broad.mit.edu	37	15	74281502	74281502	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr15:74281502A>C	uc002awe.2	-	3	408	c.337T>G	c.(337-339)TCC>GCC	p.S113A	STOML1_uc002awf.2_Missense_Mutation_p.S113A|STOML1_uc010bje.2_Missense_Mutation_p.S113A|STOML1_uc010uld.1_Missense_Mutation_p.S71A|STOML1_uc002awh.2_Intron|STOML1_uc002awg.2_Intron|STOML1_uc002awi.2_Missense_Mutation_p.S26A	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	113	Cytoplasmic (Potential).					integral to membrane	sterol binding			skin(1)	1						CTCTGAAAGGAGTCAATGAAG	0.607			NA											7	23					0	0	0.001984	0	0
BTBD12	84464	broad.mit.edu	37	16	3647557	3647557	+	Silent	SNP	T	T	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr16:3647557T>C	uc002cvp.2	-	7	2133	c.1506A>G	c.(1504-1506)CCA>CCG	p.P502P		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	502	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						TGGCAGGAAGTGGTGGCGTGC	0.567			NA						Direct_reversal_of_damage|Homologous_recombination	FanconAnemia				4	66					0	0	0.009096	0	0
ABCC12	94160	broad.mit.edu	37	16	48145406	48145406	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr16:48145406C>T	uc002efc.1	-	16	2568	c.2222G>A	c.(2221-2223)GGA>GAA	p.G741E	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	741						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				TTTCTCATTTCCTGGAGCCAA	0.403			NA											26	149					0	0	0.005443	0	0
TAF1C	9013	broad.mit.edu	37	16	84213451	84213451	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr16:84213451G>C	uc002fhn.2	-	14	1934	c.1706C>G	c.(1705-1707)GCT>GGT	p.A569G	TAF1C_uc002fhm.2_Missense_Mutation_p.A475G|TAF1C_uc010vnx.1_Missense_Mutation_p.A543G|TAF1C_uc010vny.1_Missense_Mutation_p.A160G|TAF1C_uc010vnz.1_Missense_Mutation_p.A237G|TAF1C_uc002fho.2_Missense_Mutation_p.A92G|TAF1C_uc010voa.1_Missense_Mutation_p.A237G|TAF1C_uc002fhp.1_Intron	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	569					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						GACGACGGCAGCCAGACCTGG	0.677			NA											6	5					0	0	0.001168	0	0
DEF8	54849	broad.mit.edu	37	16	90028237	90028237	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr16:90028237C>A	uc002fpn.1	+	8	1044	c.955C>A	c.(955-957)CGC>AGC	p.R319S	DEF8_uc002fpo.1_Missense_Mutation_p.R258S|DEF8_uc002fpp.1_Missense_Mutation_p.R248S|DEF8_uc010vpq.1_Missense_Mutation_p.R198S|DEF8_uc010vpr.1_Missense_Mutation_p.R258S|DEF8_uc002fpq.1_5'Flank	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	319					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GATCCCTGCACGCGTTGTACA	0.642			NA											6	24					2.7689e-08	3.18423e-08	0.001984	1	0
ZBTB4	57659	broad.mit.edu	37	17	7369753	7369753	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:7369753G>A	uc002ghc.3	-	3	618	c.368C>T	c.(367-369)CCC>CTC	p.P123L	ZBTB4_uc002ghd.3_Missense_Mutation_p.P123L	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	123	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAGGACCCGGGGTGGGGAAGA	0.438			NA											3	4					0	0	0.004672	0	0
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:7578442T>C	uc002gim.2	-	5	682	c.488A>G	c.(487-489)TAC>TGC	p.Y163C	TP53_uc002gig.1_Missense_Mutation_p.Y163C|TP53_uc002gih.2_Missense_Mutation_p.Y163C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y31C|TP53_uc010cng.1_Missense_Mutation_p.Y31C|TP53_uc002gii.1_Missense_Mutation_p.Y31C|TP53_uc010cnh.1_Missense_Mutation_p.Y163C|TP53_uc010cni.1_Missense_Mutation_p.Y163C|TP53_uc002gij.2_Missense_Mutation_p.Y163C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y70C|TP53_uc002gio.2_Missense_Mutation_p.Y31C|TP53_uc010vug.1_Missense_Mutation_p.Y124C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	163	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163C(95)|p.Y163N(17)|p.Y163H(17)|p.Y163*(7)|p.0?(7)|p.Y163S(4)|p.Y163Y(3)|p.Y163fs*1(2)|p.Y163D(2)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.I162_Y163delIY(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACTGCTTGTAGATGGCCAT	0.622	Pancreas(47;798 1329 9957 10801)		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	30					0	0	0.003163	0	0
RAI1	10743	broad.mit.edu	37	17	17701333	17701333	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:17701333C>A	uc002grm.2	+	3	5540	c.5071C>A	c.(5071-5073)CAA>AAA	p.Q1691K	RAI1_uc002grn.1_Missense_Mutation_p.Q1691K	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1691						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CTGCCTCTGCCAAAACCCGGC	0.597			NA											4	78					2.56e-06	2.89574e-06	0.009096	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:39254054A>T	uc010wfo.1	-	1	322	c.283T>A	c.(283-285)TGC>AGC	p.C95S		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4.8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|15.					keratin filament					0						ctggagatgcagcagcTAGGG	0.318			NA											3	33					0	0	0.004672	0	0
UNK	85451	broad.mit.edu	37	17	73818612	73818612	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:73818612C>G	uc002jpm.2	+	15	2120	c.2120C>G	c.(2119-2121)TCC>TGC	p.S707C		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	631							nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAAGCTTCTCCCCGGGCACT	0.617			NA											21	65					0	0	0.016522	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10218236	10218236	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr19:10218236T>G	uc002mna.2	+	3	245	c.245T>G	c.(244-246)GTC>GGC	p.V82G	PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.V82G|PPAN_uc002mmz.1_Missense_Mutation_p.V82G|PPAN_uc002mnb.1_Missense_Mutation_p.V29G|SNORD105_uc010dwy.1_5'Flank|SNORD105B_uc010dwz.1_5'Flank	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	82	Brix.				RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCCCTCGGGGTCACACACTTT	0.507			NA											3	36					0	0	0.00308	0	0
TYK2	7297	broad.mit.edu	37	19	10478970	10478970	+	Splice_Site	SNP	C	C	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr19:10478970C>A	uc002moc.3	-	4	695	c.317_splice	c.e4+1	p.R106_splice	TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Splice_Site_p.R106_splice	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2						intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCTCCACCCACCTTATGCGGA	0.542			NA											40	47					1.8453e-21	2.15806e-21	0.010771	1	0
ABCG5	64240	broad.mit.edu	37	2	44047199	44047199	+	Missense_Mutation	SNP	A	A	C	rs79482684		TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr2:44047199A>C	uc002rtn.2	-	11	1644	c.1504T>G	c.(1504-1506)TTT>GTT	p.F502V	ABCG5_uc002rtm.2_Missense_Mutation_p.F107V|ABCG5_uc002rto.2_Missense_Mutation_p.F331V|ABCG5_uc002rtp.2_Missense_Mutation_p.F107V	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	502	Extracellular (Potential).|ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAGCAGAAAAATATCCAAAT	0.423			NA											8	18					0	0	0.00308	0	0
FOXN2	3344	broad.mit.edu	37	2	48602224	48602224	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr2:48602224G>A	uc002rwh.1	+	7	1253	c.938G>A	c.(937-939)CGT>CAT	p.R313H		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	313					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GCAGCACAGCGTTGTGCATCC	0.458			NA											5	31					0	0	0.001168	0	0
TSGA10	80705	broad.mit.edu	37	2	99722034	99722034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr2:99722034G>A	uc002szg.3	-	6	965	c.337C>T	c.(337-339)CGA>TGA	p.R113*	TSGA10_uc002szh.3_Nonsense_Mutation_p.R113*|TSGA10_uc002szi.3_Nonsense_Mutation_p.R113*|TSGA10_uc010fin.1_Nonsense_Mutation_p.R113*|TSGA10_uc010yvn.1_Nonsense_Mutation_p.R113*	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	113					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						GTCATTCTTCGTAAATCAGTA	0.398			NA											50	130					0	0	0.01441	0	0
CST5	1473	broad.mit.edu	37	20	23858221	23858221	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr20:23858221T>G	uc002wtr.1	-	2	333	c.266A>C	c.(265-267)AAG>ACG	p.K89T		NM_001900	NP_001891	P28325	CYTD_HUMAN	cystatin D precursor	89						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding				0						TCGACCGAACTTCACATTGAA	0.527			NA											8	40					0	0	0.006214	0	0
ZNF217	7764	broad.mit.edu	37	20	52198741	52198741	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr20:52198741C>G	uc002xwq.3	-	1	896	c.625G>C	c.(625-627)GAG>CAG	p.E209Q	ZNF217_uc010gij.1_Missense_Mutation_p.E201Q	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	209					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAGATGCTCTCGGCCGCGTGC	0.502			NA											6	126					0	0	0.00308	0	0
GART	2618	broad.mit.edu	37	21	34897281	34897281	+	Silent	SNP	G	G	A	rs139633075	byFrequency	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr21:34897281G>A	uc002yrx.2	-	11	1228	c.1093C>T	c.(1093-1095)CTG>TTG	p.L365L	GART_uc002yrz.2_Silent_p.L365L|GART_uc010gmd.2_Silent_p.L27L|GART_uc002yry.2_Silent_p.L365L|GART_uc002ysa.2_Silent_p.L365L	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	365					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	AACACCTCCAGTCCTAGAGCT	0.443			NA											27	54					0	0	0.021523	0	0
TRPC1	7220	broad.mit.edu	37	3	142499837	142499837	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:142499837G>A	uc003evc.2	+	6	1062	c.926G>A	c.(925-927)CGT>CAT	p.R309H	TRPC1_uc003evb.2_Missense_Mutation_p.R275H	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	309	Cytoplasmic (Potential).				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						AATTTAAGTCGTCTAAAACTT	0.299			NA											16	44					0	0	0.007413	0	0
SHOX2	6474	broad.mit.edu	37	3	157817685	157817685	+	Silent	SNP	A	A	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:157817685A>G	uc003fbr.2	-	4	805	c.666T>C	c.(664-666)TAT>TAC	p.Y222Y	SHOX2_uc003fbs.2_Silent_p.Y246Y|SHOX2_uc010hvw.2_Silent_p.Y222Y	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	222					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTACGTTGACATAAGGTGCGA	0.408			NA											17	21					0	0	0.012319	0	0
SMC4	10051	broad.mit.edu	37	3	160135665	160135665	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:160135665C>G	uc003fdh.2	+	11	1705	c.1592C>G	c.(1591-1593)TCT>TGT	p.S531C	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.S295C|SMC4_uc003fdi.2_Missense_Mutation_p.S506C|SMC4_uc003fdj.2_Missense_Mutation_p.S531C|SMC4_uc010hwd.2_Missense_Mutation_p.S531C|SMC4_uc003fdl.2_Missense_Mutation_p.S234C	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	531	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATTGCAGCTTCTGAGACTCTC	0.388			NA											11	42					0	0	0.010729	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907274	164907274	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:164907274C>T	uc003fej.3	-	2	1789	c.1345G>A	c.(1345-1347)GAT>AAT	p.D449N	SLITRK3_uc003fek.2_Missense_Mutation_p.D449N	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	449	LRR 8.|Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						AAGGCCCCATCTTGGACATAG	0.423			NA								HNSCC(40;0.11)			15	40					0	0	0.006122	0	0
C5orf20	140947	broad.mit.edu	37	5	134782134	134782134	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr5:134782134A>C	uc003lav.2	-	1	905	c.665T>G	c.(664-666)GTG>GGG	p.V222G		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	dendritic cell nuclear protein 1	222	Ser-rich.					nucleus					0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGGAACTCACCCGCCTGCT	0.577			NA											7	48					0	0	0.006214	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179045155	179045155	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr5:179045155A>T	uc003mkf.3	-	6	812	c.706T>A	c.(706-708)TAT>AAT	p.Y236N	HNRNPH1_uc011dgn.1_5'Flank|HNRNPH1_uc003mkg.3_Missense_Mutation_p.Y144N|HNRNPH1_uc003mke.3_Missense_Mutation_p.Y236N|HNRNPH1_uc003mkh.3_Missense_Mutation_p.Y236N	NM_005520	NP_005511	P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1	236	2 X 16 AA Gly-rich approximate repeats.|1-1.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding				0						CCTCCACCATAAGCACCACGC	0.507			NA											27	136					0	0	0.007291	0	0
HLA-H	3136	broad.mit.edu	37	6	29855805	29855805	+	Silent	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr6:29855805C>G	uc010jro.2	+	2	94	c.42C>G	c.(40-42)GTC>GTG	p.V14V	HLA-G_uc011dmb.1_Intron|HLA-H_uc003nod.2_RNA					SubName: Full=cDNA FLJ52667, highly similar to HLA class I histocompatibility antigen, alpha chain H;												0						TCATCTCCGTCGGCTACGTGG	0.682			NA											4	23					0	0	0.009096	0	0
TNRC18	84629	broad.mit.edu	37	7	5427961	5427961	+	Silent	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr7:5427961G>A	uc003soi.3	-	5	1843	c.1494C>T	c.(1492-1494)CCC>CCT	p.P498P	TNRC18_uc010ksx.1_Silent_p.P424P	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	498	Pro-rich.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGGGGCGCCCGGGCTCCAGGC	0.736			NA											3	6					0	0	0.004672	0	0
PON3	5446	broad.mit.edu	37	7	94993257	94993257	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr7:94993257G>A	uc003unt.2	-	6	638	c.613C>T	c.(613-615)CTT>TTT	p.L205F	PON1_uc011kih.1_Intron|PON3_uc011kii.1_Missense_Mutation_p.L253F	NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	205					aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity	p.L205V(1)		ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			CTGTAGAAAAGAACATAAGTC	0.443			NA											11	154					0	0	0.010729	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95665044	95665044	+	Silent	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr7:95665044C>T	uc003uoc.3	+	13	1672	c.1395C>T	c.(1393-1395)TAC>TAT	p.Y465Y	DYNC1I1_uc003uod.3_Silent_p.Y448Y|DYNC1I1_uc003uob.2_Silent_p.Y428Y|DYNC1I1_uc003uoe.3_Silent_p.Y445Y|DYNC1I1_uc010lfl.2_Silent_p.Y454Y	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	465	WD 4.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GTACAGTCTACACGGCTTGTC	0.443			NA											50	106					0	0	0.01441	0	0
FBXO24	26261	broad.mit.edu	37	7	100190473	100190473	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr7:100190473C>T	uc003uvm.1	+	5	919	c.626C>T	c.(625-627)CCG>CTG	p.P209L	FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.P195L|FBXO24_uc003uvn.1_5'UTR|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.P247L|FBXO24_uc011kka.1_Missense_Mutation_p.P197L	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	209						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTCGGGAGCCGCAGGAAGTG	0.567			NA											6	35					0	0	0.001984	0	0
CDH17	1015	broad.mit.edu	37	8	95182742	95182742	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr8:95182742C>T	uc003ygh.2	-	9	1074	c.949G>A	c.(949-951)GGA>AGA	p.G317R	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.G317R	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	317	Extracellular (Potential).|Cadherin 3.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGTGGTTTTCCGTACTCATCC	0.398			NA											8	126					0	0	0.006214	0	0
CSMD3	114788	broad.mit.edu	37	8	113563024	113563024	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr8:113563024C>T	uc003ynu.2	-	27	4599	c.4440G>A	c.(4438-4440)ATG>ATA	p.M1480I	CSMD3_uc003yns.2_Missense_Mutation_p.M752I|CSMD3_uc003ynt.2_Missense_Mutation_p.M1440I|CSMD3_uc011lhx.1_Missense_Mutation_p.M1376I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1480	Extracellular (Potential).|CUB 8.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCTTTAAAAGCATATCATTTT	0.388			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	69					0	0	0.001984	0	0
KDM4C	23081	broad.mit.edu	37	9	6986546	6986546	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr9:6986546G>C	uc003zkh.2	+	11	2137	c.1557G>C	c.(1555-1557)GAG>GAC	p.E519D	KDM4C_uc010mhu.2_Missense_Mutation_p.E541D|KDM4C_uc011lmi.1_Missense_Mutation_p.E519D|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.E519D|KDM4C_uc011lmk.1_Missense_Mutation_p.E338D|KDM4C_uc011lml.1_Missense_Mutation_p.E206D	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	519					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						CAGTGGCAGAGAGTAATGGTG	0.512			NA											11	41					0	0	0.013537	0	0
ZNF484	83744	broad.mit.edu	37	9	95609798	95609798	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr9:95609798T>A	uc004asu.1	-	5	1420	c.1271A>T	c.(1270-1272)AAG>ATG	p.K424M	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.K426M|ZNF484_uc010mrb.1_Missense_Mutation_p.K388M|ZNF484_uc004asv.1_Missense_Mutation_p.K388M	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	424	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAATGTGACTTCCGGATAAA	0.363			NA											24	45					0	0	0.01892	0	0
DMD	1756	broad.mit.edu	37	X	32382729	32382729	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chrX:32382729C>G	uc004dda.1	-	36	5368	c.5124G>C	c.(5122-5124)AAG>AAC	p.K1708N	DMD_uc004dcw.2_Missense_Mutation_p.K364N|DMD_uc004dcx.2_Missense_Mutation_p.K367N|DMD_uc004dcz.2_Missense_Mutation_p.K1585N|DMD_uc004dcy.1_Missense_Mutation_p.K1704N|DMD_uc004ddb.1_Missense_Mutation_p.K1700N|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1708	Spectrin 12.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTGGGGTTTCTTTTTCTCTG	0.368			NA											17	107					0	0	0.007413	0	0
RB1	5925	broad.mit.edu	37	13	48939032	48939033	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr13:48939032_48939033insA	uc001vcb.2	+	9	1030_1031	c.864_865insA	c.(862-867)GTGAAAfs	p.V288fs	RB1_uc010act.1_5'UTR	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	288_289					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(6)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTTTCAGGTGAAAAATGTTTA	0.198			6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			4	4	---	---	---	---	NA	NA	NA	NA	NA
MST1	4485	broad.mit.edu	37	3	49723322	49723327	+	In_Frame_Del	DEL	GCGCTG	GCGCTG	-			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	GCGCTG	GCGCTG	-	-	GCGCTG	GCGCTG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:49723322_49723327delGCGCTG	uc003cxg.2	-	10	1288_1293	c.1216_1221delCAGCGC	c.(1216-1221)CAGCGCdel	p.QR406del	MST1_uc011bcs.1_In_Frame_Del_p.444_446ASA>A	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	392_393	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704	GBM(110;181 1524 8005 22865 46297)		NA											8	94	---	---	---	---	NA	NA	NA	NA	NA
PLXNA1	5361	broad.mit.edu	37	3	126736667	126736668	+	Frame_Shift_Ins	INS	-	-	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:126736667_126736668insC	uc003ejg.2	+	18	3527_3528	c.3523_3524insC	c.(3523-3525)ACCfs	p.T1175fs		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1198	Extracellular (Potential).|IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CACACCCTGTACCCTCACCGTG	0.649			NA											25	73	---	---	---	---	NA	NA	NA	NA	NA
SLC34A2	10568	broad.mit.edu	37	4	25678030	25678031	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr4:25678030_25678031insAA	uc003grr.2	+	13	1813_1814	c.1732_1733insAA	c.(1732-1734)CGCfs	p.R578fs	SLC34A2_uc003grs.2_Frame_Shift_Ins_p.R577fs|SLC34A2_uc010iev.2_Frame_Shift_Ins_p.R577fs	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	578	Cytoplasmic (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				CCTGCAGTCTCGCTGCCCACGC	0.629			NA											35	113	---	---	---	---	NA	NA	NA	NA	NA
ARSI	340075	broad.mit.edu	37	5	149677343	149677343	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr5:149677343delC	uc003lrv.2	-	2	1733	c.1144delG	c.(1144-1146)GCCfs	p.A382fs		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	382						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTGGTGAGGCCCGGCCCTCG	0.642			NA											26	136	---	---	---	---	NA	NA	NA	NA	NA
