Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
VPS13D	55187	broad.mit.edu	37	1	12414216	12414216	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr1:12414216C>T	uc001atv.2	+	47	9758	c.9617C>T	c.(9616-9618)ACG>ATG	p.T3206M	VPS13D_uc001atw.2_Missense_Mutation_p.T3181M|VPS13D_uc001atx.2_Missense_Mutation_p.T2393M	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3205					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTAATGGGACGCTGAAACCT	0.438												
ZCCHC11	23318	broad.mit.edu	37	1	52901122	52901122	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr1:52901122C>T	uc001ctx.2	-	27	4409	c.4175G>A	c.(4174-4176)CGC>CAC	p.R1392H	ZCCHC11_uc001cty.2_Missense_Mutation_p.R1393H|ZCCHC11_uc001ctz.2_Missense_Mutation_p.R1388H|ZCCHC11_uc001cua.1_Missense_Mutation_p.R310H	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1392					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						TACAAGGTTGCGGACCAGCTG	0.428												
SPTA1	6708	broad.mit.edu	37	1	158592943	158592943	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr1:158592943T>C	uc001fst.1	-	43	6149	c.5950A>G	c.(5950-5952)AGA>GGA	p.R1984G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1984	Spectrin 19.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCGGGAAGTCTCTCTTGCTGG	0.498												
RYR2	6262	broad.mit.edu	37	1	237494273	237494273	+	Missense_Mutation	SNP	A	A	T	rs148850606	by1000genomes	TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr1:237494273A>T	uc001hyl.1	+	3	384	c.264A>T	c.(262-264)AAA>AAT	p.K88N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	88	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGTGGAGAAATCAGAAGGGG	0.478												
ADD3	120	broad.mit.edu	37	10	111860580	111860580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr10:111860580C>T	uc001kyt.3	+	3	483	c.169C>T	c.(169-171)CGA>TGA	p.R57*	ADD3_uc001kys.3_Nonsense_Mutation_p.R57*|ADD3_uc001kyu.2_Nonsense_Mutation_p.R57*|ADD3_uc001kyv.2_Nonsense_Mutation_p.R57*|ADD3_uc001kyw.2_Nonsense_Mutation_p.R57*	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	57						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GCAGAGGAAACGAGTTACTCA	0.388												
SMC3	9126	broad.mit.edu	37	10	112350788	112350788	+	Silent	SNP	G	G	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr10:112350788G>A	uc001kze.2	+	17	1836	c.1710G>A	c.(1708-1710)ACG>ACA	p.T570T		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	570	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGTCAGCACGAAGATTTTAA	0.363												
HBG2	3048	broad.mit.edu	37	11	5275627	5275627	+	Silent	SNP	A	A	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:5275627A>C	uc001mai.1	-	2	647	c.210T>G	c.(208-210)ACT>ACG	p.T70T	HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Silent_p.T70T	NM_000559	NP_000550	P69892	HBG2_HUMAN	A-gamma globin	70					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCAAGGAAGTCAGCACCT	0.532												
OR52E6	390078	broad.mit.edu	37	11	5862875	5862875	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:5862875C>G	uc010qzq.1	-	1	253	c.253G>C	c.(253-255)GGC>CGC	p.G85R	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAAGATGCCCAGCATTTTG	0.463												
OR2D3	120775	broad.mit.edu	37	11	6942565	6942565	+	Silent	SNP	T	T	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:6942565T>C	uc010rav.1	+	1	333	c.333T>C	c.(331-333)TAT>TAC	p.Y111Y		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	111	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)		TTTCTTTTTATGGGTGTATGA	0.438												
OR4A15	81328	broad.mit.edu	37	11	55135904	55135904	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:55135904T>G	uc010rif.1	+	1	545	c.545T>G	c.(544-546)CTT>CGT	p.L182R		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	182	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GGAGGCTTTCTTCACTCATTG	0.423												
OR5D13	390142	broad.mit.edu	37	11	55541046	55541046	+	Missense_Mutation	SNP	T	T	G	rs112091941	byFrequency	TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:55541046T>G	uc010ril.1	+	1	133	c.133T>G	c.(133-135)TTG>GTG	p.L45V		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				AGTGGGGAACTTGGGCATGAT	0.398												
OR5I1	10798	broad.mit.edu	37	11	55703785	55703785	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:55703785A>G	uc010ris.1	-	1	92	c.92T>C	c.(91-93)CTC>CCC	p.L31P		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CAGAAACATGAGGAACAGGAC	0.393												
B3GAT3	26229	broad.mit.edu	37	11	62384793	62384793	+	Missense_Mutation	SNP	C	C	T	rs144327434		TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:62384793C>T	uc001ntw.2	-	3	313	c.284G>A	c.(283-285)CGA>CAA	p.R95Q	B3GAT3_uc009ynz.2_Missense_Mutation_p.R88Q|B3GAT3_uc001ntx.2_RNA|B3GAT3_uc010rlz.1_Missense_Mutation_p.R95Q	NM_012200	NP_036332	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	95	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding				0						CTGGGACAGTCGTACCAGCTC	0.637												
KRTAP5-10	387273	broad.mit.edu	37	11	71276865	71276865	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr11:71276865G>C	uc001oqt.1	+	1	257	c.232G>C	c.(232-234)GGG>CGG	p.G78R		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	78	7 X 4 AA repeats of C-C-X-P.					keratin filament				skin(1)	1						TGGCTCTTGTGGGGGCTCCAA	0.677												
CACNA1C	775	broad.mit.edu	37	12	2693707	2693707	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr12:2693707A>G	uc009zdu.1	+	16	2576	c.2263A>G	c.(2263-2265)AAC>GAC	p.N755D	CACNA1C_uc009zdv.1_Missense_Mutation_p.N752D|CACNA1C_uc001qkb.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkc.2_Missense_Mutation_p.N755D|CACNA1C_uc001qke.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkf.2_Missense_Mutation_p.N755D|CACNA1C_uc001qjz.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkd.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkg.2_Missense_Mutation_p.N755D|CACNA1C_uc009zdw.1_Missense_Mutation_p.N755D|CACNA1C_uc001qkh.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkl.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkn.2_Missense_Mutation_p.N755D|CACNA1C_uc001qko.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkp.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkr.2_Missense_Mutation_p.N755D|CACNA1C_uc001qku.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkq.2_Missense_Mutation_p.N755D|CACNA1C_uc001qks.2_Missense_Mutation_p.N755D|CACNA1C_uc001qkt.2_Missense_Mutation_p.N755D|CACNA1C_uc001qka.1_Missense_Mutation_p.N290D|CACNA1C_uc001qki.1_Missense_Mutation_p.N491D|CACNA1C_uc001qkj.1_Missense_Mutation_p.N491D|CACNA1C_uc001qkk.1_Missense_Mutation_p.N491D|CACNA1C_uc001qkm.1_Missense_Mutation_p.N491D|CACNA1C_uc001qkw.2_Missense_Mutation_p.N44D	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	755	II.|Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCTGTGGACAACCTGGCTGA	0.433												
PTPRB	5787	broad.mit.edu	37	12	70963671	70963671	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr12:70963671C>A	uc001swb.3	-	12	2794	c.2764G>T	c.(2764-2766)GAT>TAT	p.D922Y	PTPRB_uc010sto.1_Missense_Mutation_p.D922Y|PTPRB_uc010stp.1_Missense_Mutation_p.D832Y|PTPRB_uc001swc.3_Missense_Mutation_p.D1140Y|PTPRB_uc001swa.3_Missense_Mutation_p.D1052Y|PTPRB_uc001swd.3_Missense_Mutation_p.D1139Y|PTPRB_uc009zrr.1_Missense_Mutation_p.D1019Y	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	922	Fibronectin type-III 11.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTCAGGCTATCTGTTGCTCCA	0.423												
ZFC3H1	196441	broad.mit.edu	37	12	72025967	72025967	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr12:72025967C>A	uc001swo.2	-	15	3504	c.3145G>T	c.(3145-3147)GAA>TAA	p.E1049*		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1049					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TAATTGGATTCTAAAAAAGAT	0.318												
MLXIP	22877	broad.mit.edu	37	12	122618125	122618125	+	Silent	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr12:122618125C>T	uc001ubq.2	+	9	1323	c.1323C>T	c.(1321-1323)CCC>CCT	p.P441P	MLXIP_uc001ubr.2_Silent_p.P192P|MLXIP_uc001ubs.1_Silent_p.P48P|MLXIP_uc001ubt.2_Silent_p.P48P	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	441	Transactivation domain.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CTCCCAGCCCCGCCCCACCGC	0.642												
NUPL1	9818	broad.mit.edu	37	13	25887119	25887119	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr13:25887119A>G	uc001uqi.2	+	4	631	c.385A>G	c.(385-387)ACC>GCC	p.T129A	NUPL1_uc001uqg.1_Missense_Mutation_p.T129A|NUPL1_uc001uqj.2_Missense_Mutation_p.T117A	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	129	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)		TATTACCTCTACCTCAGCTAG	0.448												
TDRD3	81550	broad.mit.edu	37	13	61103242	61103242	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr13:61103242C>G	uc001via.2	+	11	2392	c.1604C>G	c.(1603-1605)TCT>TGT	p.S535C	TDRD3_uc010aef.2_Missense_Mutation_p.S360C|TDRD3_uc001vhz.3_Missense_Mutation_p.S535C|TDRD3_uc010aeg.2_Missense_Mutation_p.S628C|TDRD3_uc001vib.3_Missense_Mutation_p.S534C	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	535					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAACGAAGATCTGGGCCAATT	0.398												
NALCN	259232	broad.mit.edu	37	13	101755585	101755585	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr13:101755585G>C	uc001vox.1	-	26	3184	c.2995C>G	c.(2995-2997)CTG>GTG	p.L999V		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	999	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGGGCACCAGTTTGAATATG	0.438												
AKAP6	9472	broad.mit.edu	37	14	33292089	33292089	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr14:33292089A>C	uc001wrq.2	+	13	5240	c.5070A>C	c.(5068-5070)GAA>GAC	p.E1690D		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1690	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCTAACAGAACTTAGCAGCA	0.453												
SIX1	6495	broad.mit.edu	37	14	61113012	61113012	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr14:61113012A>C	uc001xfb.3	-	2	1092	c.844T>G	c.(844-846)TTG>GTG	p.L282V		NM_005982	NP_005973	Q15475	SIX1_HUMAN	SIX homeobox 1	282					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		TAGGACCCCAAGTCCACCAGA	0.597												
KIAA1409	57578	broad.mit.edu	37	14	94044282	94044282	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr14:94044282G>A	uc001ybv.1	+	15	1858	c.1775G>A	c.(1774-1776)CGT>CAT	p.R592H	KIAA1409_uc001ybs.1_Missense_Mutation_p.R592H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	769						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)		AGTCCTTTGCGTAGTCCGTTT	0.438												
KIAA1409	57578	broad.mit.edu	37	14	94069764	94069764	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr14:94069764C>T	uc001ybv.1	+	23	3306	c.3223C>T	c.(3223-3225)CCT>TCT	p.P1075S	KIAA1409_uc001ybs.1_Nonsense_Mutation_p.R1075*	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						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)		CTCCAAAATTCGTTGAGTATC	0.473												
CES2	8824	broad.mit.edu	37	16	66974398	66974398	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr16:66974398C>T	uc002eqr.2	+	5	1808	c.808C>T	c.(808-810)CGC>TGC	p.R270C	CES2_uc002eqq.2_Missense_Mutation_p.R270C|CES2_uc002eqs.2_Missense_Mutation_p.R113C	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	206			R -> H.		catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGCTGCACTACGCTGGGTCCA	0.592												
DPEP3	64180	broad.mit.edu	37	16	68011862	68011862	+	Silent	SNP	G	G	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr16:68011862G>A	uc002evc.3	-	5	904	c.810C>T	c.(808-810)AGC>AGT	p.S270S	DPEP3_uc010cex.2_Silent_p.S270S	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	245					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TTGTCAATCCGCTGACGTTGG	0.537												
GLG1	2734	broad.mit.edu	37	16	74487138	74487138	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr16:74487138C>A	uc002fcy.3	-	26	3517	c.3467G>T	c.(3466-3468)TGT>TTT	p.C1156F	GLG1_uc002fcx.2_Missense_Mutation_p.C1156F|GLG1_uc002fcw.3_Missense_Mutation_p.C1145F|GLG1_uc002fcz.3_Missense_Mutation_p.C573F	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	1156	Helical; (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						GAACAATATACAGATGCTCCC	0.498												
TP53	7157	broad.mit.edu	37	17	7579355	7579355	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr17:7579355A>T	uc002gim.2	-	4	526	c.332T>A	c.(331-333)CTG>CAG	p.L111Q	TP53_uc002gig.1_Missense_Mutation_p.L111Q|TP53_uc002gih.2_Missense_Mutation_p.L111Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.L111Q|TP53_uc010cni.1_Missense_Mutation_p.L111Q|TP53_uc002gij.2_Missense_Mutation_p.L111Q|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.L72Q|TP53_uc010cnk.1_Missense_Mutation_p.L126Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	111	|Interaction with HIPK1 (By similarity).		L -> Q (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> M (in a sporadic cancer; somatic mutation).|L -> R (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.0?(7)|p.L111P(6)|p.L111Q(4)|p.L111R(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.Y107fs*44(1)|p.L111L(1)|p.L111M(1)|p.L111fs*10(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(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)		CAAGAAGCCCAGACGGAAACC	0.617		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
DNAH2	146754	broad.mit.edu	37	17	7699901	7699901	+	Silent	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr17:7699901C>T	uc002giu.1	+	49	7808	c.7794C>T	c.(7792-7794)ACC>ACT	p.T2598T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2598	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTACAACACCGTGGTACAGC	0.552												
KRT16	3868	broad.mit.edu	37	17	39767724	39767724	+	Missense_Mutation	SNP	G	G	C	rs147423442	byFrequency	TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr17:39767724G>C	uc002hxg.3	-	3	783	c.644C>G	c.(643-645)ACT>AGT	p.T215S	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	215	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				GGCCTCCACAGTCTGCCGCAG	0.637												
COMP	1311	broad.mit.edu	37	19	18893969	18893969	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:18893969C>T	uc002nke.2	-	18	2158	c.2122G>A	c.(2122-2124)GAC>AAC	p.D708N	COMP_uc002nkd.2_Missense_Mutation_p.D675N|COMP_uc010xqj.1_Missense_Mutation_p.D655N	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	708	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						ACGTTGCTGTCGGCCACCAGC	0.627												
ZFP14	57677	broad.mit.edu	37	19	36832099	36832099	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:36832099C>T	uc002odx.1	-	4	722	c.629G>A	c.(628-630)AGA>AAA	p.R210K	ZFP14_uc010xtd.1_Missense_Mutation_p.R211K|ZFP14_uc010eex.1_Missense_Mutation_p.R210K	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	210	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)					TGCACGCTGTCTAAAGGCCTG	0.443												
ZFP82	284406	broad.mit.edu	37	19	36884060	36884060	+	Silent	SNP	G	G	A	rs113215509	byFrequency	TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:36884060G>A	uc002ody.1	-	5	1417	c.1182C>T	c.(1180-1182)TAC>TAT	p.Y394Y		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	394	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						CCTTACATTCGTAAGGTTTTT	0.398												
PSG8	440533	broad.mit.edu	37	19	43268240	43268240	+	Silent	SNP	A	A	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:43268240A>G	uc002ouo.2	-	2	356	c.258T>C	c.(256-258)GGT>GGC	p.G86G	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Silent_p.G86G|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_5'UTR|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Silent_p.G86G|PSG8_uc002oum.3_Silent_p.G86G|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Silent_p.G86G	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	86	Ig-like V-type.					extracellular region					0		Prostate(69;0.00899)				TAATTATTTGACCGTCTACTA	0.433												
PSG11	5680	broad.mit.edu	37	19	43522985	43522985	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:43522985C>G	uc002ovm.1	-	3	753	c.646G>C	c.(646-648)GAA>CAA	p.E216Q	PSG11_uc002ouw.2_Missense_Mutation_p.E222Q|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.E222Q|PSG11_uc002ovn.1_Missense_Mutation_p.E222Q|PSG11_uc002ovo.1_Missense_Mutation_p.E94Q|PSG11_uc002ovp.1_Missense_Mutation_p.E94Q	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	216	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				ATTTCACATTCATAGGGTCCT	0.507												
PLA2G4C	8605	broad.mit.edu	37	19	48598787	48598787	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:48598787C>T	uc002phx.2	-	7	1041	c.643G>A	c.(643-645)GGA>AGA	p.G215R	PLA2G4C_uc002phw.2_Missense_Mutation_p.G150R|PLA2G4C_uc010elr.2_Missense_Mutation_p.G215R|PLA2G4C_uc010xzd.1_Missense_Mutation_p.G225R	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	215	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AATTTGCTTCCGAAGTGGGTT	0.542												
ZNF776	284309	broad.mit.edu	37	19	58265398	58265398	+	Silent	SNP	T	T	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:58265398T>G	uc002qpx.2	+	3	1123	c.900T>G	c.(898-900)TCT>TCG	p.S300S	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.S300S	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	300	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GTGATAAATCTTTTAGTCATA	0.418												
ZNF446	55663	broad.mit.edu	37	19	58992030	58992030	+	Silent	SNP	C	C	T	rs35861454		TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr19:58992030C>T	uc002qsz.2	+	7	1407	c.1290C>T	c.(1288-1290)CGC>CGT	p.R430R	ZNF446_uc002qta.2_3'UTR|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	430	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACTGTGGCCGCGCCTTCGACT	0.652												
DHX57	90957	broad.mit.edu	37	2	39075508	39075508	+	Silent	SNP	C	C	T	rs147299842		TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:39075508C>T	uc002rrf.2	-	10	2166	c.2067G>A	c.(2065-2067)TCG>TCA	p.S689S	DHX57_uc002rrd.3_Silent_p.S73S|DHX57_uc002rre.2_Silent_p.S122S	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	689	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				CTGGCCTCTGCGATACAATGT	0.363												
RTN4	57142	broad.mit.edu	37	2	55254410	55254410	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:55254410C>G	uc002rye.2	-	3	1123	c.825G>C	c.(823-825)GAG>GAC	p.E275D	RTN4_uc002ryd.2_Missense_Mutation_p.E69D|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	275	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						TCTCTGAGACCTCTTTAGAAG	0.378												
RTN4	57142	broad.mit.edu	37	2	55254424	55254424	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:55254424C>G	uc002rye.2	-	3	1109	c.811G>C	c.(811-813)GAA>CAA	p.E271Q	RTN4_uc002ryd.2_Missense_Mutation_p.E65Q|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	271	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						TTAGAAGCTTCACTGACATTT	0.378												
MKI67IP	84365	broad.mit.edu	37	2	122489750	122489750	+	Missense_Mutation	SNP	C	C	T	rs144818693	byFrequency	TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:122489750C>T	uc002tnk.2	-	3	351	c.274G>A	c.(274-276)GAG>AAG	p.E92K	MKI67IP_uc010fls.2_Missense_Mutation_p.E92K	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN	MKI67 interacting nucleolar phosphoprotein	92	RRM.				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GACTCAAACTCCACAAATGCA	0.403												
CNTNAP5	129684	broad.mit.edu	37	2	125530443	125530443	+	Silent	SNP	T	T	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:125530443T>G	uc002tno.2	+	17	2962	c.2598T>G	c.(2596-2598)CCT>CCG	p.P866P	CNTNAP5_uc010flu.2_Silent_p.P867P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	866	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCAGTCTCCTTCTCTTCTGA	0.522												
LRP1B	53353	broad.mit.edu	37	2	141641574	141641574	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:141641574T>A	uc002tvj.1	-	25	4953	c.3981A>T	c.(3979-3981)GAA>GAT	p.E1327D	LRP1B_uc010fnl.1_Missense_Mutation_p.E509D	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1327	Extracellular (Potential).|LDL-receptor class B 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACAACCACTTCAATGGCAC	0.473										TSP Lung(27;0.18)		
TTN	7273	broad.mit.edu	37	2	179428698	179428698	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:179428698A>C	uc010zfg.1	-	275	74681	c.74457T>G	c.(74455-74457)TGT>TGG	p.C24819W	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C18514W|TTN_uc010zfi.1_Missense_Mutation_p.C18447W|TTN_uc010zfj.1_Missense_Mutation_p.C18322W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25746							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCCAGGTAACATTTTTCCG	0.468												
PLCL1	5334	broad.mit.edu	37	2	198949824	198949824	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:198949824C>A	uc010fsp.2	+	2	1874	c.1583C>A	c.(1582-1584)CCA>CAA	p.P528Q	PLCL1_uc002uuv.3_Missense_Mutation_p.P449Q	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	528	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	TCCTACCTCCCATCACCAGAA	0.408												
C2orf60	129450	broad.mit.edu	37	2	200820176	200820176	+	Silent	SNP	G	G	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:200820176G>C	uc002uvi.3	-	1	284	c.18C>G	c.(16-18)CTC>CTG	p.L6L	C2orf60_uc002uvj.3_5'UTR|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_5'UTR|C2orf60_uc002uvl.2_Silent_p.L6L|C2orf47_uc002uvm.2_Intron	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450	6					wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding				0						GGGGTACCGGGAGGTGCTGCC	0.652												
HDLBP	3069	broad.mit.edu	37	2	242178175	242178175	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr2:242178175T>C	uc002waz.2	-	20	2866	c.2638A>G	c.(2638-2640)ATA>GTA	p.I880V	HDLBP_uc002wba.2_Missense_Mutation_p.I880V|HDLBP_uc002wbb.2_Missense_Mutation_p.I832V	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	880	KH 10.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TTCTGGGGTATAGCACATTCT	0.423												
CST8	10047	broad.mit.edu	37	20	23473638	23473638	+	Missense_Mutation	SNP	G	G	A	rs149763863	by1000genomes	TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr20:23473638G>A	uc002wth.1	+	3	632	c.275G>A	c.(274-276)CGC>CAC	p.R92H		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	92						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GAAATTGCCCGCAGCGATTGC	0.383												
CST1	1469	broad.mit.edu	37	20	23729745	23729745	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr20:23729745A>C	uc002wtp.2	-	2	321	c.250T>G	c.(250-252)TTC>GTC	p.F84V		NM_001898	NP_001889	P01037	CYTN_HUMAN	cystatin SN precursor	84						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Lung NSC(19;0.0676)|all_lung(19;0.148)					ACGTCGAAGAAGTAATTCACC	0.552												
NPEPL1	79716	broad.mit.edu	37	20	57268953	57268953	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr20:57268953C>T	uc010zzs.1	+	2	406	c.311C>T	c.(310-312)CCG>CTG	p.P104L	NPEPL1_uc010zzr.1_Missense_Mutation_p.P56L|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.P76L|NPEPL1_uc002xzp.2_5'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	104					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			ACCTGCCTGCCGCCCGGAGCG	0.697												
CRYZL1	9946	broad.mit.edu	37	21	34971477	34971477	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr21:34971477C>T	uc011adw.1	-	9	835	c.655G>A	c.(655-657)GAT>AAT	p.D219N	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.D243N|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysq.2_5'Flank	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	219					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						AGGACAATATCTACTCCCAGG	0.393												
CRYZL1	9946	broad.mit.edu	37	21	34971482	34971482	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr21:34971482C>A	uc011adw.1	-	9	830	c.650G>T	c.(649-651)GGA>GTA	p.G217V	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.G241V|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysq.2_5'Flank	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	217					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						AATATCTACTCCCAGGCCACC	0.383												
CRYZL1	9946	broad.mit.edu	37	21	34971513	34971513	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr21:34971513C>T	uc011adw.1	-	9	799	c.619G>A	c.(619-621)GAA>AAA	p.E207K	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.E231K|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysq.2_5'Flank	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	207					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						AAACAGCTTTCAGCAACATGA	0.403												
UMODL1	89766	broad.mit.edu	37	21	43546460	43546460	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr21:43546460G>A	uc002zaf.1	+	18	3153	c.3153G>A	c.(3151-3153)ATG>ATA	p.M1051I	UMODL1_uc002zad.1_Missense_Mutation_p.M979I|UMODL1_uc002zae.1_Missense_Mutation_p.M1107I|UMODL1_uc002zag.1_Missense_Mutation_p.M1179I|UMODL1_uc002zal.1_Missense_Mutation_p.M1I|UMODL1_uc010gpa.1_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	1051	Extracellular (Potential).|ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CTCAGAACATGACGAACACCG	0.652												
UMODL1	89766	broad.mit.edu	37	21	43546475	43546475	+	Silent	SNP	G	G	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr21:43546475G>A	uc002zaf.1	+	18	3168	c.3168G>A	c.(3166-3168)GTG>GTA	p.V1056V	UMODL1_uc002zad.1_Silent_p.V984V|UMODL1_uc002zae.1_Silent_p.V1112V|UMODL1_uc002zag.1_Silent_p.V1184V|UMODL1_uc002zal.1_Silent_p.V6V|UMODL1_uc010gpa.1_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	1056	Extracellular (Potential).|ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						ACACCGTGGTGAGGACCACGC	0.627												
UMODL1	89766	broad.mit.edu	37	21	43546526	43546526	+	Silent	SNP	G	G	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr21:43546526G>A	uc002zaf.1	+	18	3219	c.3219G>A	c.(3217-3219)CTG>CTA	p.L1073L	UMODL1_uc002zad.1_Silent_p.L1001L|UMODL1_uc002zae.1_Silent_p.L1129L|UMODL1_uc002zag.1_Silent_p.L1201L|UMODL1_uc002zal.1_Silent_p.L23L|UMODL1_uc010gpa.1_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	1073	Extracellular (Potential).|ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						TCCACCACCTGAAGATCCTGA	0.602												
APOL6	80830	broad.mit.edu	37	22	36055314	36055314	+	Missense_Mutation	SNP	G	G	A	rs149179370		TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr22:36055314G>A	uc003aoe.2	+	3	997	c.703G>A	c.(703-705)GTG>ATG	p.V235M	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	235					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0						AAATGCTCGCGTGCTGGGAGG	0.562												
CERK	64781	broad.mit.edu	37	22	47103812	47103812	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr22:47103812C>A	uc003bia.2	-	6	750	c.643G>T	c.(643-645)GCC>TCC	p.A215S	CERK_uc010hae.2_Missense_Mutation_p.A17S	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	215	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGACCCCGGCGCTCCTCTGC	0.632												
PLCL2	23228	broad.mit.edu	37	3	17051550	17051550	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr3:17051550G>T	uc011awc.1	+	5	793	c.688G>T	c.(688-690)GTT>TTT	p.V230F	PLCL2_uc010het.1_Missense_Mutation_p.V112F|PLCL2_uc011awd.1_Missense_Mutation_p.V112F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	238	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						CTCCGCAGATGTTGCAAACAT	0.408												
SACM1L	22908	broad.mit.edu	37	3	45746628	45746628	+	Silent	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr3:45746628C>T	uc003cos.2	+	3	336	c.132C>T	c.(130-132)GTC>GTT	p.V44V	SACM1L_uc011bag.1_5'UTR|SACM1L_uc011bah.1_Missense_Mutation_p.S21L	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	suppressor of actin 1	44						Golgi apparatus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CTTTTAAAGTCAAGAAAGATG	0.358												
CELSR3	1951	broad.mit.edu	37	3	48699919	48699919	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr3:48699919G>A	uc003cul.2	-	1	430	c.149C>T	c.(148-150)ACG>ATG	p.T50M	CELSR3_uc003cuf.1_Missense_Mutation_p.T120M	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	50	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTTGGCCCCGTAGTGGCAGC	0.677												
DOCK3	1795	broad.mit.edu	37	3	51112789	51112789	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr3:51112789A>C	uc011bds.1	+	7	490	c.467A>C	c.(466-468)CAT>CCT	p.H156P		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	156						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTACTAGACATTTGGGCCTG	0.448												
ZBTB49	166793	broad.mit.edu	37	4	4301776	4301776	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr4:4301776G>T	uc003ghu.2	+	2	279	c.104G>T	c.(103-105)TGC>TTC	p.C35F	ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	35	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						AAAGGAGTCTGCTTTAAAGCG	0.468												
TECRL	253017	broad.mit.edu	37	4	65175598	65175598	+	Silent	SNP	G	G	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr4:65175598G>T	uc003hcv.2	-	6	712	c.603C>A	c.(601-603)ACC>ACA	p.T201T	TECRL_uc003hcw.2_Silent_p.T201T	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	201					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						GAACAAATAAGGTTTCCAAAA	0.323												
SPP1	6696	broad.mit.edu	37	4	88902928	88902928	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr4:88902928A>C	uc003hra.2	+	6	683	c.518A>C	c.(517-519)AAG>ACG	p.K173T	SPP1_uc003hrb.2_Missense_Mutation_p.K146T|SPP1_uc003hrc.2_Missense_Mutation_p.K159T|SPP1_uc011cde.1_Missense_Mutation_p.K186T|SPP1_uc003hrd.2_Missense_Mutation_p.K132T	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	secreted phosphoprotein 1 isoform a	173					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			ovary(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		AAATCTAAGAAGTTTCGCAGA	0.443												
ODZ3	55714	broad.mit.edu	37	4	183603102	183603102	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr4:183603102C>T	uc003ivd.1	+	10	2007	c.1970C>T	c.(1969-1971)ACG>ATG	p.T657M	ODZ3_uc003ive.1_Missense_Mutation_p.T63M	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	657	EGF-like 5.|Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGCCACGGAACGTATCTTCAA	0.512												
PCDHGB1	56104	broad.mit.edu	37	5	140731511	140731511	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr5:140731511G>A	uc003ljo.1	+	1	1684	c.1684G>A	c.(1684-1686)GCG>ACG	p.A562T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.A562T	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	562	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTACCCCGCGCTGGGGCC	0.697												
PCDHGB2	56103	broad.mit.edu	37	5	140741192	140741192	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr5:140741192A>C	uc003ljs.1	+	1	1490	c.1490A>C	c.(1489-1491)AAG>ACG	p.K497T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.K497T|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	497	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGACCTGAAGCCGCGGGAG	0.612												
EBF1	1879	broad.mit.edu	37	5	158250238	158250238	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr5:158250238G>A	uc010jip.2	-	8	1026	c.724C>T	c.(724-726)CGG>TGG	p.R242W	EBF1_uc011ddw.1_Missense_Mutation_p.R109W|EBF1_uc011ddx.1_Missense_Mutation_p.R242W|EBF1_uc003lxl.3_Missense_Mutation_p.R219W	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	242					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.R242Q(1)	HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGAGCCCTCCGCCCATGCTTG	0.493			T	HMGA2	lipoma							
DDX41	51428	broad.mit.edu	37	5	176942189	176942189	+	Silent	SNP	G	G	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr5:176942189G>A	uc003mho.2	-	7	663	c.642C>T	c.(640-642)ACC>ACT	p.T214T	DDX41_uc003mhm.2_5'UTR|DDX41_uc003mhn.2_Silent_p.T83T|DDX41_uc003mhp.2_Silent_p.T83T|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	214	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ACACTCACATGGTGGGGATGC	0.542												
COL23A1	91522	broad.mit.edu	37	5	177987741	177987741	+	Silent	SNP	G	G	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr5:177987741G>A	uc003mje.2	-	2	661	c.303C>T	c.(301-303)GAC>GAT	p.D101D		NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	101	Extracellular (Potential).|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCGCTAGTCCGTCCAACTTCT	0.493												
PRL	5617	broad.mit.edu	37	6	22294767	22294767	+	Silent	SNP	G	G	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr6:22294767G>A	uc003ndp.2	-	2	594	c.75C>T	c.(73-75)AGC>AGT	p.S25S	PRL_uc003ndo.2_Silent_p.S26S|PRL_uc003ndq.2_Silent_p.S25S|PRL_uc003ndr.1_RNA	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin precursor	25					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding				0	Ovarian(93;0.163)					AGGGGGCCACGCTCTGGCACA	0.592												
MUC21	394263	broad.mit.edu	37	6	30955037	30955037	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr6:30955037A>T	uc003nsh.2	+	2	1336	c.1085A>T	c.(1084-1086)AAC>ATC	p.N362I	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	362	23.|Ser-rich.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						ACAGCCACCAACTCTGGGTCC	0.632												
COL12A1	1303	broad.mit.edu	37	6	75797464	75797464	+	Splice_Site	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr6:75797464C>T	uc003phs.2	-	65	9177	c.9011_splice	c.e65-1	p.G3004_splice	COL12A1_uc003pht.2_Splice_Site_p.G1840_splice	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CCTTGTGGACCTAGTGTGGAG	0.507												
GJA10	84694	broad.mit.edu	37	6	90605670	90605670	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr6:90605670C>G	uc011eaa.1	+	1	1483	c.1483C>G	c.(1483-1485)CTG>GTG	p.L495V		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	495	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ATCACAAGAGCTGTTCCATTC	0.473												
SGK1	6446	broad.mit.edu	37	6	134492172	134492172	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr6:134492172T>C	uc003qen.3	-	10	1116	c.1027A>G	c.(1027-1029)AAG>GAG	p.K343E	SGK1_uc003qeo.3_Missense_Mutation_p.K438E|SGK1_uc011ect.1_Missense_Mutation_p.K333E|SGK1_uc011ecu.1_Missense_Mutation_p.K299E|SGK1_uc011ecv.1_Missense_Mutation_p.K357E|SGK1_uc011ecw.1_Missense_Mutation_p.K371E	NM_005627	NP_005618	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1 isoform	343	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AAGTCATCCTTGGCCCCGAGC	0.532												
IGF2R	3482	broad.mit.edu	37	6	160482581	160482581	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr6:160482581G>C	uc003qta.2	+	24	3457	c.3309G>C	c.(3307-3309)AGG>AGC	p.R1103S		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1103	8.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCACAGTCAGGAAACCTTGGA	0.507												
FIGNL1	63979	broad.mit.edu	37	7	50514332	50514332	+	Silent	SNP	T	T	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr7:50514332T>C	uc003tpc.2	-	4	1031	c.654A>G	c.(652-654)ACA>ACG	p.T218T	FIGNL1_uc003tpb.2_Silent_p.T107T|FIGNL1_uc003tpd.2_Silent_p.T218T|FIGNL1_uc003tpe.2_Silent_p.T218T|FIGNL1_uc010kyy.2_Silent_p.T218T	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	218					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CAAACAATGGTGTGACATGGA	0.423												
PCLO	27445	broad.mit.edu	37	7	82545485	82545485	+	Silent	SNP	T	T	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr7:82545485T>C	uc003uhx.2	-	7	12106	c.11817A>G	c.(11815-11817)CAA>CAG	p.Q3939Q	PCLO_uc003uhv.2_Silent_p.Q3939Q|PCLO_uc010lec.2_Silent_p.Q904Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3870	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TAGGTTGAACTTGAGGTGTGA	0.438												
SRRT	51593	broad.mit.edu	37	7	100485890	100485890	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr7:100485890G>A	uc003uwy.2	+	20	2709	c.2441G>A	c.(2440-2442)CGC>CAC	p.R814H	SRRT_uc010lhl.1_Missense_Mutation_p.R813H|SRRT_uc003uxa.2_Missense_Mutation_p.R809H|SRRT_uc003uwz.2_Missense_Mutation_p.R810H|uc010lhm.1_5'Flank	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	814	Pro-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						GGTGCTGTCCGCCCTGCAGTC	0.557												
PRKRIP1	79706	broad.mit.edu	37	7	102065546	102065546	+	Silent	SNP	C	C	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr7:102065546C>A	uc003uzh.2	+	6	598	c.543C>A	c.(541-543)ACC>ACA	p.T181T	PRKRIP1_uc003uzf.2_Silent_p.T130T|PRKRIP1_uc003uzg.2_Silent_p.T130T|PRKRIP1_uc011kkq.1_Silent_p.T124T|PRKRIP1_uc011kkr.1_Missense_Mutation_p.H160N|PRKRIP1_uc003uzi.1_3'UTR	NM_024653	NP_078929	Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	181						nucleolus				ovary(1)	1						CCAGTTTCACCATGGGGCGAT	0.607												
LHFPL3	375612	broad.mit.edu	37	7	104377350	104377350	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr7:104377350A>G	uc003vce.2	+	2	798	c.674A>G	c.(673-675)GAA>GGA	p.E225G	LHFPL3_uc003vcf.2_Missense_Mutation_p.E225G	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	211						integral to membrane					0						CTGAAGGCAGAAAACAAAGGT	0.433												
SVOPL	136306	broad.mit.edu	37	7	138314822	138314822	+	Missense_Mutation	SNP	G	G	A	rs149009334	by1000genomes	TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr7:138314822G>A	uc011kqh.1	-	9	835	c.835C>T	c.(835-837)CGG>TGG	p.R279W	SVOPL_uc003vue.2_Missense_Mutation_p.R127W	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	279						integral to membrane	transmembrane transporter activity				0						AATGTGGTCCGTAAATATTTA	0.378												
CHRNB3	1142	broad.mit.edu	37	8	42587391	42587391	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr8:42587391C>G	uc003xpi.1	+	5	1069	c.941C>G	c.(940-942)ACC>AGC	p.T314S		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	314	Helical; (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATCATTGTTACCGTGTTTGTC	0.443												
KCNB2	9312	broad.mit.edu	37	8	73480086	73480086	+	Silent	SNP	C	C	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr8:73480086C>A	uc003xzb.2	+	2	705	c.117C>A	c.(115-117)ATC>ATA	p.I39I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	39	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GAGTTAAGATCAATGTGGGGG	0.572												
RIMS2	9699	broad.mit.edu	37	8	104898096	104898096	+	Silent	SNP	T	T	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr8:104898096T>C	uc003yls.2	+	2	844	c.603T>C	c.(601-603)TCT>TCC	p.S201S	RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S231S(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478										HNSCC(12;0.0054)		
SYK	6850	broad.mit.edu	37	9	93640013	93640013	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr9:93640013A>T	uc004aqz.2	+	10	1547	c.1342A>T	c.(1342-1344)ATG>TTG	p.M448L	SYK_uc004ara.2_Missense_Mutation_p.M425L|SYK_uc004arb.2_Missense_Mutation_p.M425L|SYK_uc004arc.2_Missense_Mutation_p.M448L|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	448	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						GATGCTGGTTATGGAGATGGC	0.517			T	ETV6|ITK	MDS|peripheral T-cell lymphoma							
PTCH1	5727	broad.mit.edu	37	9	98220421	98220421	+	Silent	SNP	G	G	A			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr9:98220421G>A	uc004avk.3	-	18	3230	c.3042C>T	c.(3040-3042)CCC>CCT	p.P1014P	PTCH1_uc010mro.2_Silent_p.P863P|PTCH1_uc010mrp.2_Silent_p.P863P|PTCH1_uc010mrq.2_Silent_p.P863P|PTCH1_uc004avl.3_Silent_p.P863P|PTCH1_uc010mrr.2_Silent_p.P948P|PTCH1_uc004avm.3_Silent_p.P1013P	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1014	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.I963fs*2(1)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGAAGAGGAAGGGGTAGCCGT	0.567									Basal_Cell_Nevus_syndrome			
SVEP1	79987	broad.mit.edu	37	9	113238531	113238531	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr9:113238531T>G	uc010mtz.2	-	14	2889	c.2552A>C	c.(2551-2553)AAA>ACA	p.K851T	SVEP1_uc010mua.1_Missense_Mutation_p.K851T|SVEP1_uc004beu.2_Missense_Mutation_p.K851T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	851					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TAGGCAATATTTTTTGGTCAG	0.363												
KIAA2022	340533	broad.mit.edu	37	X	73961323	73961323	+	Silent	SNP	A	A	C			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chrX:73961323A>C	uc004eby.2	-	3	3686	c.3069T>G	c.(3067-3069)ACT>ACG	p.T1023T		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1023					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GGAAGTCATCAGTGATATCAT	0.458												
UPRT	139596	broad.mit.edu	37	X	74494178	74494178	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chrX:74494178G>T	uc004ecb.1	+	1	218	c.89G>T	c.(88-90)CGA>CTA	p.R30L	UPRT_uc010nlu.1_Missense_Mutation_p.R30L|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.R30L|UPRT_uc004ece.1_5'Flank	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	30					nucleoside metabolic process	cytoplasm|nucleus					0						GAGCAGCTGCGACCTGGCGAT	0.627												
ARMCX1	51309	broad.mit.edu	37	X	100809059	100809059	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chrX:100809059T>G	uc004ehv.2	+	4	1517	c.1146T>G	c.(1144-1146)GAT>GAG	p.D382E	ARMCX1_uc004ehw.2_Missense_Mutation_p.D382E	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	382	ARM 3.					integral to membrane	binding			ovary(3)|pancreas(1)	4						AAGAATGGGATAGAGAGATTC	0.338												
ARMCX3	51566	broad.mit.edu	37	X	100880290	100880290	+	Silent	SNP	A	A	G			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chrX:100880290A>G	uc004ehz.1	+	5	854	c.321A>G	c.(319-321)AAA>AAG	p.K107K	ARMCX3_uc004eia.1_Silent_p.K107K|ARMCX3_uc004eib.1_Silent_p.K107K|ARMCX3_uc004eic.1_Silent_p.K107K	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	107						integral to membrane	binding			ovary(1)|lung(1)	2						CTGTCCAGAAACGGGCTTCCC	0.433												
PNMA3	29944	broad.mit.edu	37	X	152226073	152226073	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chrX:152226073C>T	uc004fhc.2	+	2	997	c.661C>T	c.(661-663)CGG>TGG	p.R221W	PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	221					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					cagtgggctccgggccagcaa	0												
H2AFB1	474382	broad.mit.edu	37	X	154113540	154113540	+	Silent	SNP	C	C	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chrX:154113540C>T	uc004fmu.2	+	1	224	c.216C>T	c.(214-216)GGC>GGT	p.G72G	F8_uc004fmt.2_Intron|F8_uc004fms.2_Intron|F8A1_uc004fmv.2_5'Flank	NM_080720	NP_542451	P0C5Y9	H2AB1_HUMAN	H2A histone family, member B3	72					nucleosome assembly	nucleosome|nucleus	DNA binding				0	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCTGGCGGGCAACGAGGCCC	0.627												
FAM129A	116496	broad.mit.edu	37	1	184859256	184859269	+	Frame_Shift_Del	DEL	AAATGCCTGTCAGA	AAATGCCTGTCAGA	-			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr1:184859255_184859268GAAATGCCTGTCAGA>G	uc001gra.3	-	3	601_614	c.407_420TCTGACAGGCATTTC>C	c.(406-420)tctgacaggcatttcfs	p.S136fs	FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	136					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GAGGGTCTGGGAAATGCCTGTCAGACAACAGATT	0.467												
CDC23	8697	broad.mit.edu	37	5	137534434	137534437	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr5:137534433_137534436CTCTT>C	uc003lcl.3	-	6	721_724	c.690_693AAGAG>G	c.(688-693)aaagagfs	p.K230fs		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	230					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCAGAAAAAACTCTTTCATCCAGG	0.441												
PLA2G1B	5319	broad.mit.edu	37	12	120763700	120763701	+	Frame_Shift_Ins	INS	-	-	A	rs78096484		TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr12:120763699_120763700C>CA	uc001tyd.3	-	1	194_195	c.158_159G>TG	c.(157-159)ttgfs	p.L53fs	PLA2G1B_uc009zwx.3_Frame_Shift_Ins_p.L53fs	NM_000928	NP_000919	P04054	PA21B_HUMAN	Homo sapiens phospholipase A2, group IB (pancreas) (PLA2G1B), mRNA.	53					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of DNA replication|positive regulation of NF-kappaB transcription factor activity|positive regulation of calcium ion transport into cytosol|positive regulation of immune response|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGAGCCCCCCAAGCCACAGTA	0.614											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BZRAP1	9256	broad.mit.edu	37	17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-8530-01A-11D-2340-08	TCGA-CD-8530-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c14adb-46f6-4c64-b47d-49e42e87fb4f	112c8f9d-0430-48be-90ed-8f427b4ec20b	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653