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
AADACL4	343066	broad.mit.edu	37	1	12726621	12726621	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:12726621G>A	uc001auf.3	+	3	1099	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	367						integral to membrane	carboxylesterase activity	p.R366P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGGGGTCCGCGTGACATGGTA	0.493												
CNKSR1	10256	broad.mit.edu	37	1	26507045	26507045	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:26507045C>T	uc001bln.4	+	1	212	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.R52W|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	52	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGCTGTGCGGTCTCTGGG	0.622												
CYP4B1	1580	broad.mit.edu	37	1	47264924	47264924	+	Silent	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:47264924T>C	uc001cqn.4	+	0	255	c.171T>C	c.(169-171)caT>caC	p.H57H	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Silent_p.H57H|CYP4B1_uc009vym.3_Silent_p.H57H|CYP4B1_uc010omk.2_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	57					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTTTTGGACATGCCCTCGAGG	0.572												
HEATR8	374977	broad.mit.edu	37	1	55166995	55166995	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:55166995C>T	uc010ooe.1	+	19	3609	c.3285_splice	c.e19+1	p.D1095_splice	HEATR8_uc001cxq.3_Splice_Site|HEATR8_uc010ood.1_Splice_Site_p.D613_splice|HEATR8_uc001cxs.2_Splice_Site|HEATR8_uc010oof.1_Splice_Site|HEATR8_uc001cxr.1_Splice_Site|HEATR8_uc009vzq.1_Splice_Site|HEATR8_uc001cxt.1_Splice_Site|HEATR8_uc009vzr.1_Splice_Site_p.D297_splice	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1095						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTTCAGCGACGTGAGGACCT	0.592												
EVI5	7813	broad.mit.edu	37	1	93159365	93159366	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:93159365_93159366insT	uc010otf.2	-	8	1232_1233	c.1222_1223insA	c.(1222-1224)atgfs	p.M408fs	EVI5_uc001dox.3_Frame_Shift_Ins_p.M408fs|EVI5_uc001doy.1_Non-coding_Transcript	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	408	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.K407T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TTACTTTTTCATTTTTTTTGAA	0.317												
CD101	9398	broad.mit.edu	37	1	117552685	117552685	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:117552685C>T	uc010oxb.1	+	1	315	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CD101_uc009whd.3_Missense_Mutation_p.T86M|CD101_uc010oxc.1_Missense_Mutation_p.T86M|CD101_uc010oxd.1_Missense_Mutation_p.T86M	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	86	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGTATATACGCAGCGGGTG	0.532												
ACP6	51205	broad.mit.edu	37	1	147119358	147119358	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:147119358G>A	uc001epr.2	-	9	1618	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L		NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	385					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GCAACCTCTCGGCACCTGCTC	0.522												
AQP10	89872	broad.mit.edu	37	1	154295505	154295505	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:154295505C>T	uc001feu.3	+	2	320	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	94					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.G93*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCGTTGGACGCCTCCCCTG	0.527												
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:154680586_154680588delGCT	uc021pah.1	-	8	2419_2421	c.2105_2107delAGC	c.(2104-2109)cagctc>ctc	p.Q702del	KCNN3_uc001ffo.3_In_Frame_Del_p.Q382del|KCNN3_uc001ffp.3_In_Frame_Del_p.Q687del	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	692						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GCAGACAGGAGCTGCTGCTGCTG	0.640												
CAMK1G	57172	broad.mit.edu	37	1	209773439	209773439	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:209773439G>A	uc001hhd.3	+	2	306	c.204G>A	c.(202-204)gaG>gaA	p.E68E	CAMK1G_uc001hhf.4_Silent_p.E68E|CAMK1G_uc001hhe.3_Silent_p.E68E	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	68	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TGGAGAATGAGATTGCTGTGT	0.453												
GJC2	57165	broad.mit.edu	37	1	228345795	228345795	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:228345795C>T	uc021pkg.1	+	0	336	c.336C>T	c.(334-336)cgC>cgT	p.R112R	GJC2_uc001hsk.3_Silent_p.R112R	NM_020435	NP_065168	Q5T442	CXG2_HUMAN	Homo sapiens gap junction protein, gamma 2, 47kDa (GJC2), mRNA.	112					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				Agcggcgccgcgccctccgcc	0.766												
OR2L8	391190	broad.mit.edu	37	1	248112821	248112821	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:248112821T>C	uc001idt.1	+	0	662	c.662T>C	c.(661-663)cTc>cCc	p.L221P	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCCAGGTTCTCTTTGCTGTC	0.463												
CUBN	8029	broad.mit.edu	37	10	17083094	17083094	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr10:17083094T>C	uc001ioo.3	-	26	4007	c.3955A>G	c.(3955-3957)Aac>Gac	p.N1319D		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1319	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATGTGTAGTTCACAGTGTTG	0.383												
A1CF	29974	broad.mit.edu	37	10	52587910	52587910	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr10:52587910T>A	uc001jjj.3	-	6	938	c.750A>T	c.(748-750)gaA>gaT	p.E250D	A1CF_uc010qho.2_Missense_Mutation_p.E258D|A1CF_uc010qhn.2_Missense_Mutation_p.E258D|A1CF_uc009xov.3_Missense_Mutation_p.E250D|A1CF_uc001jji.3_Missense_Mutation_p.E250D|A1CF_uc001jjh.3_Missense_Mutation_p.E258D	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	250	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TATTGTTGAATTCCTTTTCAA	0.353												
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr10:89692904C>T	uc001kfb.3	+	4	1420	c.388C>T	c.(388-390)Cga>Tga	p.R130*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
OR51G1	79324	broad.mit.edu	37	11	4945014	4945014	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:4945014T>A	uc010qyr.2	-	0	556	c.556A>T	c.(556-558)Atc>Ttc	p.I186F		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTTCATGATCTCCAGGTGA	0.522												
FADS3	3995	broad.mit.edu	37	11	61646097	61646097	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:61646097C>G	uc001nsm.3	-	4	787	c.634G>C	c.(634-636)Gcc>Ccc	p.A212P		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	212					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACCAGTGGGCGGAGAAGCCC	0.667												
DNAJC4	3338	broad.mit.edu	37	11	64001432	64001432	+	Silent	SNP	C	C	T	rs138996784	by1000genomes	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:64001432C>T	uc001nyt.3	+	4	1020	c.597C>T	c.(595-597)aaC>aaT	p.N199N	AX747192_uc001nyr.1_5'Flank|DNAJC4_uc001nys.3_Silent_p.N198N|DNAJC4_uc001nyu.3_Silent_p.N198N|VEGFB_uc001nyx.3_5'Flank|VEGFB_uc001nyw.3_5'Flank			Q9NNZ3	DNJC4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 4 (DNAJC4), mRNA.	198					protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						CCTTCTACAACGAAGCCCGGG	0.547												
FAT3	120114	broad.mit.edu	37	11	92533806	92533806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:92533806C>T	uc001pdj.4	+	8	7644	c.7627C>T	c.(7627-7629)Cga>Tga	p.R2543*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2543	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCCAAGGATCGATTCCTCAT	0.488										TCGA Ovarian(4;0.039)		
CNTN5	53942	broad.mit.edu	37	11	99690432	99690432	+	Silent	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:99690432G>T	uc001pga.3	+	3	717	c.213G>T	c.(211-213)ggG>ggT	p.G71G	CNTN5_uc009ywv.2_Silent_p.G71G|CNTN5_uc001pfz.3_Silent_p.G71G|CNTN5_uc021qpb.1_Silent_p.G71G|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	71					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCTGGCTAGGGGCAGCTCAGA	0.433												
CLDN25	644672	broad.mit.edu	37	11	113650596	113650596	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:113650596A>G	uc009yyw.1	+	0	79	c.79A>G	c.(79-81)Acc>Gcc	p.T27A		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	27						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CTCCTGTGTTACCACCATCCT	0.557												
ACSM4	341392	broad.mit.edu	37	12	7476137	7476137	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:7476137G>C	uc001qsx.1	+	8	1289	c.1289G>C	c.(1288-1290)tGt>tCt	p.C430S		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	430					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CGGCCCTTCTGTTTCTTCTCT	0.398												
CD163	9332	broad.mit.edu	37	12	7636017	7636017	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:7636017G>A	uc001qsz.3	-	11	3162	c.3034C>T	c.(3034-3036)Cgc>Tgc	p.R1012C	CD163_uc001qta.3_Missense_Mutation_p.R1012C|CD163_uc009zfw.2_Missense_Mutation_p.R1045C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1012	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGGCCCCAGCGTCTGGCAGGA	0.512												
KIAA1467	57613	broad.mit.edu	37	12	13208635	13208635	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:13208635A>G	uc001rbi.3	+	1	211	c.188A>G	c.(187-189)gAt>gGt	p.D63G		NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	63						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CCCGACTCAGATGCTGAGGTT	0.562												
PTPRB	5787	broad.mit.edu	37	12	70949924	70949924	+	Silent	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:70949924A>G	uc001swb.4	-	16	4095	c.4065T>C	c.(4063-4065)ccT>ccC	p.P1355P	PTPRB_uc010sto.2_Silent_p.P1265P|PTPRB_uc010stp.2_Silent_p.P1265P|PTPRB_uc001swc.4_Silent_p.P1573P|PTPRB_uc001swa.4_Silent_p.P1485P	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1355	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	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)			GTATCTTGTCAGGCTCTAAAG	0.438												
FSCB	84075	broad.mit.edu	37	14	44974610	44974610	+	Silent	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:44974610A>T	uc001wvn.3	-	0	1890	c.1581T>A	c.(1579-1581)ctT>ctA	p.L527L		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	527	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TAGCTGCTAGAAGCTGAATTT	0.493												
SYT16	83851	broad.mit.edu	37	14	62536340	62536340	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:62536340C>T	uc001xfu.1	+	1	740	c.543C>T	c.(541-543)gaC>gaT	p.D181D	SYT16_uc010tsd.1_Silent_p.D181D	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	181										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTGGGGATGACGAAGAGCTGT	0.483												
SERPINA5	5104	broad.mit.edu	37	14	95054156	95054156	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:95054156T>C	uc001ydm.2	+	2	667	c.457T>C	c.(457-459)Tac>Cac	p.Y153H	SERPINA5_uc010ave.2_Missense_Mutation_p.Y153H|SERPINA5_uc001ydn.1_Missense_Mutation_p.Y153H	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	153					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GAAGACGCTGTACCTGGCAGA	0.537												
WDR72	256764	broad.mit.edu	37	15	53994476	53994476	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr15:53994476G>A	uc002acj.2	-	11	1466	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L	WDR72_uc010bfi.1_Missense_Mutation_p.S475L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	475										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTCTAATTTCGAAGAGAGACC	0.383												
HERC1	8925	broad.mit.edu	37	15	63948072	63948072	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr15:63948072C>T	uc002amp.3	-	49	10101	c.9953G>A	c.(9952-9954)cGa>cAa	p.R3318Q		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3318					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCAATTCCTCGGAGAAAGCT	0.448												
LOC645752	645752	broad.mit.edu	37	15	78211165	78211165	+	Missense_Mutation	SNP	A	A	G	rs113224490		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr15:78211165A>G	uc010bky.2	-	10	1366	c.602T>C	c.(601-603)tTc>tCc	p.F201S						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		GTGGTTCTGGAAGAGCACGAG	0.597												
GOLGA6L10	647042	broad.mit.edu	37	15	83015554	83015554	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr15:83015554A>G	uc021ssz.1	-	2	360	c.224T>C	c.(223-225)cTg>cCg	p.L75P	LOC440295_uc002bhl.2_Intron|GOLGA6L9_uc021ssr.1_Intron|LOC440295_uc002bhm.2_Intron|GOLGA6L10_uc021sta.1_Non-coding_Transcript			A6NI86	GG6LA_HUMAN	Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA.	87										endometrium(1)|kidney(4)	5						TCTTACCTCCAGATCCTGCAG	0.622												
ACSM2B	348158	broad.mit.edu	37	16	20548638	20548638	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr16:20548638T>C	uc002dhj.4	-	14	1886	c.1676A>G	c.(1675-1677)cAa>cGa	p.Q559R	ACSM2B_uc002dhk.4_Missense_Mutation_p.Q559R	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	559					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTTGGTTCGTTGAATTTTCCC	0.483												
IL21R	50615	broad.mit.edu	37	16	27441407	27441407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr16:27441407G>A	uc002dor.2	+	2	629	c.81G>A	c.(79-81)tgG>tgA	p.W27*	IL21R_uc002doq.2_Nonsense_Mutation_p.W5*|IL21R_uc002dos.2_Nonsense_Mutation_p.W5*	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	5					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CGCGTGGCTGGGCCGCCCCCT	0.716			T	BCL6	NHL							
RILP	83547	broad.mit.edu	37	17	1551765	1551765	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:1551765G>T	uc002ftd.3	-	4	994	c.700C>A	c.(700-702)Cgc>Agc	p.R234S	SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Homo sapiens Rab interacting lysosomal protein (RILP), mRNA.	234					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCGAGGGGCGCCCGAGCTGC	0.637												
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:7577097C>G	uc002gim.2	-	7	1035	c.841G>C	c.(841-843)Gac>Cac	p.D281H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149H|TP53_uc010cnf.1_Missense_Mutation_p.D149H|TP53_uc002gii.1_Missense_Mutation_p.D149H|TP53_uc010cni.1_Missense_Mutation_p.D281H|TP53_uc010cnh.1_Missense_Mutation_p.D281H|TP53_uc002gij.2_Missense_Mutation_p.D281H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(61)|p.D281N(51)|p.R280K(47)|p.D281H(38)|p.D281E(28)|p.D281Y(27)|p.R280G(19)|p.R280S(15)|p.R280I(14)|p.D281G(10)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.R280_D281delRD(4)|p.D281V(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.D281fs*63(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.A276fs*64(1)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GTGCGCCGGTCTCTCCCAGGA	0.547		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)		
KDM6B	23135	broad.mit.edu	37	17	7752755	7752755	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:7752755C>T	uc002gix.3	+	0	1892	c.1055C>T	c.(1054-1056)cCa>cTa	p.P352L	KDM6B_uc002giw.1_Missense_Mutation_p.P1050L	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1050	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCACAGCTCCAGCCCCTCCA	0.677												
GRB7	2886	broad.mit.edu	37	17	37902194	37902194	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:37902194C>A	uc002hsr.3	+	12	1574	c.1299C>A	c.(1297-1299)caC>caA	p.H433Q	GRB7_uc002hss.3_Missense_Mutation_p.H433Q|GRB7_uc021twu.1_Missense_Mutation_p.H456Q|GRB7_uc010cwc.3_Missense_Mutation_p.H433Q|GRB7_uc002hst.3_Intron	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	433	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCTGGTTCCACGGGCGCATTT	0.617												
GSDMA	284110	broad.mit.edu	37	17	38133285	38133285	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:38133285C>T	uc002htl.1	+	11	1430	c.1312C>T	c.(1312-1314)Ctt>Ttt	p.L438F	GSDMA_uc002htm.1_Missense_Mutation_p.L438F	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	438					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCTCTCTCTCCTTCAGCAGCT	0.557												
KRTAP4-9	100132386	broad.mit.edu	37	17	39262218	39262218	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:39262218C>A	uc010wfp.2	+	0	578	c.578C>A	c.(577-579)aCc>aAc	p.T193N		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	193						keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TATCGCCCAACCTGTGTCATC	0.647												
MPO	4353	broad.mit.edu	37	17	56355275	56355275	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:56355275C>T	uc002ivu.1	-	6	1294	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	373					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	AGGGCCCGGCCGTTGTCTTGG	0.652												
DNAH17	8632	broad.mit.edu	37	17	76420030	76420030	+	Missense_Mutation	SNP	G	G	A	rs143246806	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:76420030G>A	uc010dhp.2	-	80	13471	c.13346C>T	c.(13345-13347)gCg>gTg	p.A4449V	PGS1_uc002jvm.3_Intron|PGS1_uc010wtt.2_Intron|PGS1_uc010dho.3_Intron|PGS1_uc002jvn.3_Intron|PGS1_uc002jvo.3_Intron|DNAH17_uc002jvq.3_Missense_Mutation_p.A734V|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCCACTTCGCTGCCTTCTC	0.567												
TCF4	6925	broad.mit.edu	37	18	52921829	52921829	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr18:52921829C>T	uc002lga.3	-	15	1615	c.1555G>A	c.(1555-1557)Gac>Aac	p.D519N	TCF4_uc021ukg.1_Missense_Mutation_p.D257N|TCF4_uc021ukh.1_Missense_Mutation_p.D257N|TCF4_uc002lfw.4_Missense_Mutation_p.D257N|TCF4_uc010xdu.1_Missense_Mutation_p.D287N|TCF4_uc010xdv.1_Missense_Mutation_p.D287N|TCF4_uc021uki.1_Missense_Mutation_p.D346N|TCF4_uc002lfx.2_Missense_Mutation_p.D346N|TCF4_uc010xdw.1_Missense_Mutation_p.D287N|TCF4_uc002lfy.2_Missense_Mutation_p.D375N|TCF4_uc010xdx.1_Missense_Mutation_p.D393N|TCF4_uc021ukj.1_Missense_Mutation_p.D357N|TCF4_uc021ukk.1_Missense_Mutation_p.D357N|TCF4_uc021ukl.1_Missense_Mutation_p.D414N|TCF4_uc002lfz.2_Missense_Mutation_p.D417N|TCF4_uc010dph.1_Missense_Mutation_p.D417N|TCF4_uc010dpi.3_Missense_Mutation_p.D423N|TCF4_uc010xdy.1_Missense_Mutation_p.D393N	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	417					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCATGCATGTCCCCATGACCA	0.502												
SOCS6	9306	broad.mit.edu	37	18	67992070	67992070	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr18:67992070A>G	uc002lkr.1	+	1	482	c.166A>G	c.(166-168)Atc>Gtc	p.I56V	SOCS6_uc010dqq.2_Missense_Mutation_p.I56V|SOCS6_uc021ulj.1_Missense_Mutation_p.I56V	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	56					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CAGCTGCGATATCAACGGTGA	0.428												
HMHA1	23526	broad.mit.edu	37	19	1083208	1083208	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr19:1083208G>A	uc002lqz.1	+	20	3042	c.2811G>A	c.(2809-2811)acG>acA	p.T937T	HMHA1_uc010xgd.1_Silent_p.T953T|HMHA1_uc010xge.1_Silent_p.T805T|HMHA1_uc002lra.1_Silent_p.T777T|HMHA1_uc002lrb.1_Silent_p.T820T|HMHA1_uc002lrc.1_Silent_p.T572T	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	937	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGGCCCACGCTGCTTCGGC	0.672												
FARSA	2193	broad.mit.edu	37	19	13035595	13035595	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr19:13035595G>A	uc002mvs.2	-	9	1101	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	FARSA_uc010xmv.1_Silent_p.F320F	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	351					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GGTCGATGGAGAAGTACTTGA	0.612												
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393												
TRAPPC12	51112	broad.mit.edu	37	2	3482694	3482694	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:3482694G>T	uc002qxm.1	+	10	2161	c.1955G>T	c.(1954-1956)aGa>aTa	p.R652I	TRAPPC12_uc002qxn.1_Missense_Mutation_p.R652I|TRAPPC12_uc010ewm.1_Missense_Mutation_p.R658I	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	652							binding										ATGGATCCAAGAAACGCAGTG	0.532												
RNF144A	9781	broad.mit.edu	37	2	7154885	7154885	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:7154885A>G	uc002qys.3	+	4	725	c.283A>G	c.(283-285)Aag>Gag	p.K95E		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	95						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		AAGATATAAAAAGCTACAATT	0.368												
THADA	63892	broad.mit.edu	37	2	43802136	43802136	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:43802136C>T	uc002rsw.4	-	10	1420	c.1068G>A	c.(1066-1068)ctG>ctA	p.L356L	THADA_uc002rsx.4_Silent_p.L356L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Silent_p.L66L|THADA_uc002rta.2_Silent_p.L66L|THADA_uc002rtb.1_Silent_p.L356L|THADA_uc002rtc.4_Silent_p.L356L|THADA_uc002rtd.3_Silent_p.L356L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	356							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGATTCTAGACAGAAACATTT	0.373												
TTC30B	150737	broad.mit.edu	37	2	178416069	178416069	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:178416069A>T	uc002uln.3	-	0	1456	c.1423T>A	c.(1423-1425)Tac>Aac	p.Y475N	TTC30B_uc010zfc.1_Missense_Mutation_p.Y247N	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	475					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCTTCTTTGTATTTGTTTTCC	0.393												
MYO1B	4430	broad.mit.edu	37	2	192265141	192265141	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:192265141A>G	uc010fsg.2	+	21	2584	c.2329A>G	c.(2329-2331)Aag>Gag	p.K777E	MYO1B_uc002usq.2_Missense_Mutation_p.K777E|MYO1B_uc002usr.2_Missense_Mutation_p.K777E|MYO1B_uc002usu.2_Missense_Mutation_p.K51E	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	777	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GAAGCATCAAAAGCGCTGTAA	0.473												
DNAH7	56171	broad.mit.edu	37	2	196852773	196852773	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:196852773A>G	uc002utj.4	-	12	1635	c.1534T>C	c.(1534-1536)Ttc>Ctc	p.F512L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	512	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTGCGAGGAAGTTATCAACA	0.338												
CXCR1	3577	broad.mit.edu	37	2	219029097	219029097	+	Missense_Mutation	SNP	G	G	A	rs61755739		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:219029097G>A	uc021vwq.1	-	0	838	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	CXCR1_uc002vhc.3_Missense_Mutation_p.R280C|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	280					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.R279C(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						ATGTTGTTGCGGCGCTCACAG	0.572												
TRIP12	9320	broad.mit.edu	37	2	230724206	230724206	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:230724206C>T	uc002vpx.1	-	3	418	c.309G>A	c.(307-309)ggG>ggA	p.G103G	TRIP12_uc021vxw.1_Silent_p.G61G|TRIP12_uc002vpy.1_Intron|TRIP12_uc002vpw.1_Silent_p.G61G|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Silent_p.G61G	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	61					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TAGGCACCTGCCCCGTTTTTT	0.453												
SLC52A3	113278	broad.mit.edu	37	20	744614	744614	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr20:744614C>T	uc002wed.4	-	2	940	c.601G>A	c.(601-603)Gga>Aga	p.G201R	SLC52A3_uc002wee.2_Missense_Mutation_p.G201R	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	201					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GCTTCCATTCCGGGGAGGGCG	0.587												
PCSK2	5126	broad.mit.edu	37	20	17434509	17434509	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr20:17434509C>T	uc002wpm.3	+	8	1362	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N	PCSK2_uc002wpl.3_Silent_p.N317N|PCSK2_uc010zrm.2_Silent_p.N301N	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	336	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCCATCAACGACGGCAGGA	0.617												
PRIC285	85441	broad.mit.edu	37	20	62198633	62198633	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr20:62198633G>A	uc002yfm.2	-	6	2970	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	PRIC285_uc002yfl.1_Missense_Mutation_p.A124V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	693					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	p.L692L(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GTGGTCGCCCGCCAGCACGAG	0.682												
SAMSN1	64092	broad.mit.edu	37	21	15858270	15858270	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr21:15858270A>T	uc002yju.1	-	7	1167	c.1085T>A	c.(1084-1086)aTg>aAg	p.M362K	SAMSN1_uc010gky.1_Missense_Mutation_p.M194K|SAMSN1_uc002yjv.1_Missense_Mutation_p.M430K	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	362					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTTATGTACCATGTCAGACAG	0.398												
RBMS3	27303	broad.mit.edu	37	3	30032579	30032579	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:30032579G>T	uc003cel.3	+	13	1556	c.1186G>T	c.(1186-1188)Gtt>Ttt	p.V396F	RBMS3_uc010hfq.3_Missense_Mutation_p.V393F|RBMS3_uc003cek.3_Missense_Mutation_p.V380F|RBMS3_uc010hfr.3_Missense_Mutation_p.V380F|RBMS3_uc003cem.3_Missense_Mutation_p.V378F	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	396						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TTAGGGTGTTGTTGCTGATAC	0.493												
CLASP2	23122	broad.mit.edu	37	3	33584995	33584995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:33584995G>A	uc021wvc.1	-	31	3569	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	CLASP2_uc003cfs.3_Nonsense_Mutation_p.R319*|CLASP2_uc021wva.1_Nonsense_Mutation_p.R194*|CLASP2_uc021wvb.1_Nonsense_Mutation_p.R899*|CLASP2_uc011axt.1_Nonsense_Mutation_p.R712*	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1121										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GCTGGTGATCGTGGTGTTGGT	0.373												
STAB1	23166	broad.mit.edu	37	3	52550236	52550236	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:52550236G>A	uc003dej.3	+	37	4200	c.4126G>A	c.(4126-4128)Ggg>Agg	p.G1376R	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1376	Laminin EGF-like 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGCCGCTACGGGCCCAACTG	0.697												
FAM116A	201627	broad.mit.edu	37	3	57646541	57646541	+	Silent	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:57646541A>G	uc003dja.3	-	6	716	c.645T>C	c.(643-645)ccT>ccC	p.P215P		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	215										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		GCACTGGGGCAGGCCATCGAT	0.303												
C3orf67	200844	broad.mit.edu	37	3	58739528	58739528	+	Missense_Mutation	SNP	C	C	T	rs139574013		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:58739528C>T	uc003dkt.1	-	14	1956	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H	C3orf67_uc003dkr.1_Non-coding_Transcript|C3orf67_uc003dks.1_Missense_Mutation_p.R457H	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	508										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GGAATCTGGACGCTGCTCAGC	0.388												
PPP4R2	151987	broad.mit.edu	37	3	73114106	73114106	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:73114106C>T	uc003dph.1	+	7	812	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	PPP4R2_uc003dpi.1_Missense_Mutation_p.L191F	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 2 (PPP4R2), mRNA.	248					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	p.R247T(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GGTAAAAAGACTCAGGTTTGA	0.433												
ABCC5	10057	broad.mit.edu	37	3	183667646	183667646	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:183667646C>T	uc003fmg.3	-	21	3287	c.3122G>A	c.(3121-3123)cGt>cAt	p.R1041H	ABCC5_uc011bqt.2_Missense_Mutation_p.R569H|ABCC5_uc010hxl.3_Intron	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1041	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATTGTCCAGACGCTTCAGCTC	0.562												
HTR3E	285242	broad.mit.edu	37	3	183824315	183824315	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:183824315G>T	uc010hxr.3	+	6	1477	c.1283G>T	c.(1282-1284)gGg>gTg	p.G428V	HTR3E_uc010hxq.3_Missense_Mutation_p.G402V|HTR3E_uc003fml.4_Missense_Mutation_p.G387V|HTR3E_uc003fmm.3_Missense_Mutation_p.G417V|HTR3E_uc003fmn.3_Missense_Mutation_p.G402V	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	402						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.H428H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAGCTGACAGGGGGCTCAGAA	0.612												
RGS12	6002	broad.mit.edu	37	4	3427237	3427237	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:3427237T>G	uc003ggw.3	+	13	4185	c.3281T>G	c.(3280-3282)cTg>cGg	p.L1094R	RGS12_uc003ggv.3_Missense_Mutation_p.L1094R|RGS12_uc003ggy.1_Missense_Mutation_p.L492R|RGS12_uc003ggz.3_Missense_Mutation_p.L446R|RGS12_uc010icu.1_Missense_Mutation_p.L293R|RGS12_uc011bvs.2_Missense_Mutation_p.L436R|RGS12_uc003gha.3_Missense_Mutation_p.L436R|RGS12_uc010icv.3_Missense_Mutation_p.L293R|RGS12_uc003ghb.2_Missense_Mutation_p.L293R	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1094	RBD 2.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATATCGAGTCTGGACGGACAG	0.572												
CLNK	116449	broad.mit.edu	37	4	10567771	10567771	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:10567771T>C	uc003gmo.4	-	5	291	c.154A>G	c.(154-156)Aga>Gga	p.R52G	CLNK_uc003gmp.3_Missense_Mutation_p.R10G	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	52					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GCAAAGTTTCTTTCCTAAGCA	0.458												
CORIN	10699	broad.mit.edu	37	4	47625643	47625643	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:47625643C>A	uc003gxm.3	-	18	2578	c.2485G>T	c.(2485-2487)Ggc>Tgc	p.G829C	CORIN_uc011bzf.2_Missense_Mutation_p.G690C|CORIN_uc011bzg.2_Missense_Mutation_p.G762C	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	829	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.G829G(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGACACAGCCACAGATATGT	0.527												
PDHA2	5161	broad.mit.edu	37	4	96761557	96761557	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:96761557C>T	uc003htr.4	+	0	319	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	86					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R86C(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GAAATTCATTCGCGGTTTCTG	0.517												
ENPEP	2028	broad.mit.edu	37	4	111464226	111464226	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:111464226G>T	uc003iab.4	+	13	2342	c.2000_splice	c.e13+1	p.R667_splice		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	667					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCCTTGGCAAGGTGCGTTTTA	0.328												
BRIX1	55299	broad.mit.edu	37	5	34924991	34924991	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:34924991C>G	uc003jja.3	+	8	727	c.703C>G	c.(703-705)Cgt>Ggt	p.R235G		NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.	235	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AATAGGACCTCGTTTTGTCTT	0.358												
CHSY3	337876	broad.mit.edu	37	5	129244015	129244015	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:129244015C>T	uc003kvd.3	+	1	1048	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	350						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AAGATGCGTTCGCCGTTTTGG	0.438												
CSNK1A1	1452	broad.mit.edu	37	5	148929730	148929730	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:148929730C>T	uc003lqw.1	-	1	618	c.138G>A	c.(136-138)aaG>aaA	p.K46K	CSNK1A1_uc011dcc.2_5'UTR|CSNK1A1_uc003lqx.1_Silent_p.K46K|CSNK1A1_uc003lqy.1_Silent_p.K46K|CSNK1A1_uc010jha.1_Silent_p.K46K	NM_001025105	NP_001020276	P48729	KC1A_HUMAN	Homo sapiens casein kinase 1, alpha 1 (CSNK1A1), transcript variant 1, mRNA.	46	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GAGATTCTAGCTTCACTGCCA	0.502												
DSP	1832	broad.mit.edu	37	6	7569463	7569463	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:7569463C>T	uc003mxp.1	+	11	1743	c.1464C>T	c.(1462-1464)aaC>aaT	p.N488N	DSP_uc003mxq.1_Silent_p.N488N|DSP_uc021yle.1_Silent_p.N488N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	488	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGACAACAACGAGCGCAGCA	0.527												
SRPK1	6732	broad.mit.edu	37	6	35855829	35855829	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:35855829G>C	uc003olj.3	-	4	486	c.362C>G	c.(361-363)gCa>gGa	p.A121G	SRPK1_uc003olh.3_Missense_Mutation_p.A14G|SRPK1_uc003oli.3_Missense_Mutation_p.A14G|SRPK1_uc011dtg.2_Missense_Mutation_p.A105G	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	121	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCATCTAGTGCTGTTTCAGT	0.338												
CDKN1A	1026	broad.mit.edu	37	6	36652137	36652137	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:36652137G>A	uc021yzb.1	+	2	361	c.259G>A	c.(259-261)Gat>Aat	p.D87N	CDKN1A_uc021yzc.1_Missense_Mutation_p.D87N|CDKN1A_uc011dtq.2_Missense_Mutation_p.D121N|CDKN1A_uc003omm.4_Missense_Mutation_p.D87N|CDKN1A_uc003omn.3_Missense_Mutation_p.D87N	NM_078467	NP_510867	P38936	CDN1A_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.	87					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	p.R86W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCGAGGCCGGGATGAGTTGGG	0.657												
PKHD1	5314	broad.mit.edu	37	6	51910848	51910848	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:51910848G>T	uc003pah.1	-	23	2822	c.2546C>A	c.(2545-2547)aCc>aAc	p.T849N	PKHD1_uc003pai.3_Missense_Mutation_p.T849N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	849					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCAGGACAAGGTCCACACGTG	0.463												
HCRTR2	3062	broad.mit.edu	37	6	55113582	55113582	+	Silent	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:55113582A>G	uc003pcl.3	+	1	684	c.369A>G	c.(367-369)ggA>ggG	p.G123G	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Silent_p.G58G	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	123					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGTTTTTTGGACAGTCCCTTT	0.428												
SYNE1	23345	broad.mit.edu	37	6	152652051	152652051	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:152652051T>C	uc021zhb.1	-	75	13992	c.13769A>G	c.(13768-13770)aAc>aGc	p.N4590S	SYNE1_uc003qot.4_Missense_Mutation_p.N4519S|SYNE1_uc003qou.4_Missense_Mutation_p.N4590S|SYNE1_uc010kiz.3_Missense_Mutation_p.N345S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4590					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCATTAGGTTGATTTCAGG	0.353										HNSCC(10;0.0054)		
ADCYAP1R1	117	broad.mit.edu	37	7	31126052	31126052	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:31126052T>A	uc003tca.2	+	9	1013	c.724T>A	c.(724-726)Ttc>Atc	p.F242I	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.F221I|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	242					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTCCAACTACTTCTGGCTGTT	0.542												
HECW1	23072	broad.mit.edu	37	7	43485123	43485123	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:43485123G>A	uc003tid.1	+	10	2957	c.2352G>A	c.(2350-2352)ccG>ccA	p.P784P	HECW1_uc011kbi.1_Silent_p.P784P	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	784					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.L784I(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AAAGAAGCCCGGAAGGTCTGG	0.612												
GNAT3	346562	broad.mit.edu	37	7	80091827	80091827	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:80091827G>A	uc011kgu.2	-	5	711	c.711C>T	c.(709-711)gaC>gaT	p.D237D	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	237					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CCACTTCTTCGTCTTCCACGA	0.408												
SEMA3C	10512	broad.mit.edu	37	7	80378254	80378254	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:80378254A>G	uc011kgw.2	-	16	1935	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	SEMA3C_uc003uhj.3_Missense_Mutation_p.I601T	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	601	Ig-like C2-type.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGCCACTTGATAGATGCCTG	0.453												
CACNA2D1	781	broad.mit.edu	37	7	81635118	81635118	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:81635118G>C	uc003uhr.1	-	16	1734	c.1478C>G	c.(1477-1479)tCt>tGt	p.S493C		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	493	Cache.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATCTTCCAAAGACACATCTAC	0.328												
KEL	3792	broad.mit.edu	37	7	142658027	142658027	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:142658027G>A	uc003wcb.3	-	3	598	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	130					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTATTCTCCGAAGTCGGTTT	0.502												
ARHGEF10	9639	broad.mit.edu	37	8	1871955	1871955	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:1871955G>A	uc003wpr.3	+	20	2581	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	ARHGEF10_uc003wpq.1_Silent_p.T825T|ARHGEF10_uc003wps.3_Silent_p.T763T|ARHGEF10_uc003wpv.3_Silent_p.T534T|ARHGEF10_uc010lre.3_Silent_p.T481T	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	826					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GGCGACCGACGTTCTTTACAG	0.488												
WRN	7486	broad.mit.edu	37	8	30977768	30977768	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:30977768G>C	uc003xio.4	+	20	3246	c.2458G>C	c.(2458-2460)Gct>Cct	p.A820P	WRN_uc010lvk.3_Missense_Mutation_p.A287P	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	820	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GTGTGTCATAGCTACCATAGC	0.353			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome			
SDC2	6383	broad.mit.edu	37	8	97614730	97614730	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:97614730C>G	uc003yhv.1	+	2	898	c.280C>G	c.(280-282)Cag>Gag	p.Q94E	SDC2_uc011lgu.1_Missense_Mutation_p.Q65E	NM_002998	NP_002989	P34741	SDC2_HUMAN	Homo sapiens syndecan 2 (SDC2), mRNA.	94						integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GCTGAATATACAGAACAAGAT	0.423												
RGS22	26166	broad.mit.edu	37	8	101059740	101059740	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:101059740G>A	uc003yjb.1	-	10	1969	c.1774C>T	c.(1774-1776)Cgg>Tgg	p.R592W	RGS22_uc003yja.1_Missense_Mutation_p.R411W|RGS22_uc003yjc.1_Missense_Mutation_p.R580W|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.R496W	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	592					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R592W(3)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAAAGCTCCCGCTTCCAAGGC	0.383												
FAM83A	84985	broad.mit.edu	37	8	124206323	124206323	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:124206323C>T	uc003ypv.3	+	3	2722	c.708C>T	c.(706-708)ttC>ttT	p.F236F	FAM83A_uc003ypw.3_Silent_p.F236F|FAM83A_uc003ypx.3_Silent_p.F236F|FAM83A_uc003ypy.3_Silent_p.F180F|FAM83A_uc003ypz.3_Silent_p.F236F	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	236										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCAGGAAATTCGCTGGCCAAA	0.473												
ZNF322	387328	broad.mit.edu	37	9	99961445	99961445	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr9:99961445G>A	uc004axd.2	-	0	408	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	BC070371_uc004axb.2_5'Flank|BC070371_uc004axc.1_5'Flank|AK309476_uc010msl.1_Intron	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN	Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 2, mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										GTTCTCTGATGTCCTGAAAGC	0.408												
OR13C8	138802	broad.mit.edu	37	9	107332231	107332231	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr9:107332231G>A	uc011lvo.2	+	0	783	c.783G>A	c.(781-783)aaG>aaA	p.K261K		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGTACGCAAAGCCTGAGTCTA	0.453												
PIR	8544	broad.mit.edu	37	X	15509315	15509315	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:15509315C>T	uc004cwu.3	-	1	551	c.66G>A	c.(64-66)gcG>gcA	p.A22A	FIGF_uc022bth.1_Non-coding_Transcript|PIR_uc004cwv.3_Silent_p.A22A|BMX_uc004cww.3_Intron	NM_003662	NP_003653	O00625	PIR_HUMAN	Homo sapiens pirin (iron-binding nuclear protein) (PIR), transcript variant 1, mRNA.	22					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TCCGGACCCTCGCTCCAACCC	0.522												
KLHL34	257240	broad.mit.edu	37	X	21675201	21675201	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:21675201C>T	uc004czz.1	-	0	1248	c.706G>A	c.(706-708)Gtg>Atg	p.V236M		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	236	BACK.							p.V236M(2)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCGAGTACACGCGCCGCAGT	0.667												
FAM47B	170062	broad.mit.edu	37	X	34962438	34962438	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:34962438A>T	uc004ddi.2	+	0	1526	c.1490A>T	c.(1489-1491)aAg>aTg	p.K497M		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	497										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CAAGACCAAAAGATTAAGAAG	0.468												
CXorf27	25763	broad.mit.edu	37	X	37850145	37850145	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:37850145A>T	uc004ddt.4	+	0	76	c.53A>T	c.(52-54)cAa>cTa	p.Q18L		NM_012274	NP_036406	O75409	HYPM_HUMAN	Homo sapiens chromosome X open reading frame 27 (CXorf27), mRNA.	18							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AACCAGACTCAAGACCCTTCT	0.458												
BCOR	54880	broad.mit.edu	37	X	39921626	39921626	+	Silent	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:39921626T>C	uc004den.4	-	9	4486	c.4194A>G	c.(4192-4194)agA>agG	p.R1398R	BCOR_uc004dep.4_Silent_p.R1364R|BCOR_uc004deo.4_Silent_p.R1346R|BCOR_uc010nhb.3_Silent_p.R106R|BCOR_uc004dem.4_Silent_p.R1364R	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1398					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCGGCCGCTTTCTGAATCTCC	0.587			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
LOC100509575	280657	broad.mit.edu	37	X	47970738	47970738	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:47970738G>T	uc011mlv.2	+	4	352	c.280_splice	c.e4+1	p.V94_splice	LOC100509575_uc022bvt.1_Splice_Site	NM_001205103	NP_001192032	B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.	94					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										GTGGGAATGAGGGTGAGTAGA	0.483												
DGKK	139189	broad.mit.edu	37	X	50134485	50134485	+	Silent	SNP	A	A	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:50134485A>C	uc010njr.2	-	10	1838	c.1794T>G	c.(1792-1794)ccT>ccG	p.P598P		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	598	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GGATGTCCAGAGGTGACTTGC	0.537												
NAP1L2	4674	broad.mit.edu	37	X	72433530	72433530	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:72433530T>A	uc004ebi.3	-	0	1181	c.799A>T	c.(799-801)Aag>Tag	p.K267*		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	267					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTCAGGAGCTTCAGAATAGGC	0.368												
PCDH11X	27328	broad.mit.edu	37	X	91132696	91132696	+	Missense_Mutation	SNP	C	C	T	rs62621113		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:91132696C>T	uc004efk.2	+	1	2302	c.1457C>T	c.(1456-1458)aCg>aTg	p.T486M	PCDH11X_uc004efl.2_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.2_Missense_Mutation_p.T486M|PCDH11X_uc004efm.2_Missense_Mutation_p.T486M|PCDH11X_uc004efn.2_Missense_Mutation_p.T486M|PCDH11X_uc004efo.2_Missense_Mutation_p.T486M|PCDH11X_uc004efh.2_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	486	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCCAGTTGACGAAAGTAAGT	0.438												
FAM70A	55026	broad.mit.edu	37	X	119410875	119410875	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:119410875G>A	uc004eso.4	-	7	839	c.612C>T	c.(610-612)taC>taT	p.Y204Y	FAM70A_uc004esp.4_Silent_p.Y180Y|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	204						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						CGATGTATTCGTAGTACCCAC	0.582												
